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Relevance to Autism

A de novo likely gene-disruptive (LGD) variant in the DMWD gene was identified in an ASD proband from a simplex family from the ASD: Genomes to Outcome Study cohort (Yuen et al., 2017), while a second de novo LGD variant in this gene was identified in an ASD proband from the SPARK cohort (Feliciano et al., 2019). A meta-analysis of de novo variants in 4773 published ASD trios and 465 SPARK trios using TADA identified DMWD as an ASD candidate gene with a q-value 0.1.

Molecular Function

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References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Recent Recommendation
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1120R001 
 frameshift_variant 
 c.1367del 
 p.Leu456ArgfsTer203 
 De novo 
 NA 
 Simplex 
 GEN1120R002 
 frameshift_variant 
 c.985del 
 p.Leu329CysfsTer14 
 De novo 
 NA 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Deletion-Duplication
 13
 

No Animal Model Data Available

 

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