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Intellectual disability

Gene: DDX53

Amber List (moderate evidence)

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

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Ellen McDonagh (Genomics England Curator)

I don't know

Candidate gene for ID in PMID: 26350204. Not found in OMIM or Gene2Phenotype associated to disease. Deletions at the DDX53-PTCHD1 locus are reported in PMID: 20531469 as a susceptibility locus for autism. PTCHD1 is a green gene on the ID panel. PMID: reports different microdeletions that disrupt the PTCHD1 gene and deletions upstream the gene that includes DDX53 and the pseudogene FAM3C2. Five of the 11 upstream deletions span DDX53. However, based on the function of DDX53 protein and the expression pattern of this gene,which is restricted mainly to testis and tumor cells, authors discuss that it is unlikely to contribute to the ASD or ID phenotype. In this region are also ncRNAs which may be regulators and deletion of these may be involved in autism.
Created: 27 Oct 2017, 2:46 p.m.

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
Tags
deletions promoter
Clinvar variants
Variants in DDX53
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 2

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to DDX53. Panel: Intellectual disability Publications for gene DDX53 was set to ['20531469']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DDX53 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DDX53 was added to Intellectual disabilitypanel. Sources: Expert Review Red