Autism

Gene: DDX53

Green List (high evidence)

DDX53 (DEAD-box helicase 53)
EnsemblGeneIds (GRCh38): ENSG00000184735
EnsemblGeneIds (GRCh37): ENSG00000184735
DDX53 is in 2 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

The DDX53 gene is a single-exon RNA helicase which lies intronic to PTCHD1-AS (a multi-isoform long noncoding RNA (lncRNA) at the Xp22.11 locus. It is thought to play a role in RNA decay, RNA processing, ribosome biogenesis, and translation initiation.

9 affected males and 3 affected females from 9 unrelated families with ASD and rare, predicted damaging or loss-of-function variants in DDX53 (including a gene deletion involving DDX53 and exons of the noncoding RNA PTCHD1-AS). A further 26 individuals with ASD were identified (from Autism Speaks MSSNG and Simons Foundation Autism Research Initiative) with 19 rare, damaging DDX53 variations (mostly maternally inherited). No functional evidence.
Sources: Literature
Created: 14 Jan 2025, 10:06 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
autism spectrum disorder MONDO:0005258

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • autism spectrum disorder MONDO:0005258
Clinvar variants
Variants in DDX53
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: ddx53 has been classified as Green List (High Evidence).

14 Jan 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: DDX53 was added gene: DDX53 was added to Autism. Sources: Literature Mode of inheritance for gene: DDX53 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: DDX53 were set to PMID: 39706195 Phenotypes for gene: DDX53 were set to autism spectrum disorder MONDO:0005258 Review for gene: DDX53 was set to GREEN