DMWD
Homo sapiens
Gene Name: DM1 locus, WD repeat containing
Aliases: D19S593E, DMR-N9, DMRN9, gene59
Chromosome No: 19
Chromosome Band: 19q13.32
Genetic Category: Rare single gene variant
Aliases: D19S593E, DMR-N9, DMRN9, gene59
Chromosome No: 19
Chromosome Band: 19q13.32
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 1
Evidence score: 2
ASD Reports: 4
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 1
Evidence score: 2
| Associated Disorders: |
|
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
External Links
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
