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DDG2P

Gene: DDX54

Red List (low evidence)
DDX54 (DEAD-box helicase 54)
EnsemblGeneIds (GRCh38): ENSG00000123064
EnsemblGeneIds (GRCh37): ENSG00000123064
OMIM: 611665, Gene2Phenotype
DDX54 is in 1 panel

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for DDX54-related intellectual disability and central nervous system anomalies are limited, biallelic_autosomal and undetermined (PMID:31256877). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02757.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease Intellectual Disability and Central Nervous System anomalies is limited. The allelic requirement and mutation consequence are biallelic_autosomal and uncertain (PMID:31256877).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
DDX54-related intellectual disability and central nervous system anomalies; Intellectual Disability and Central Nervous System anomalies

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P, September 2019: Intellectual Disability and Central Nervous System anomalies. Disease confidence rating in DDG2P: possible. DDG2P mutation consequence: uncertain. DDG2P allelic requirement: biallelic.
Created: 8 Oct 2019, 3:13 p.m. | Last Modified: 8 Oct 2019, 3:13 p.m.
Panel Version: 1.130
Created: 8 Oct 2019, 3:13 p.m.
Last Modified: 8 Oct 2019, 3:13 p.m.
Panel version: 1.130

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • Intellectual Disability and Central Nervous System anomalies
OMIM
611665
Clinvar variants
Variants in DDX54
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: DDX54 was changed from Other to None

4 Oct 2023, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene DDX54 was changed from Other - please provide details in the comments to Other

8 Oct 2019, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: DDX54 was added gene: DDX54 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DDX54 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDX54 were set to 31256877 Phenotypes for gene: DDX54 were set to Intellectual Disability and Central Nervous System anomalies Mode of pathogenicity for gene: DDX54 was set to Other - please provide details in the comments