Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: DDX58

Red List (low evidence)

DDX58 (DExD/H-box helicase 58)
EnsemblGeneIds (GRCh38): ENSG00000107201
EnsemblGeneIds (GRCh37): ENSG00000107201
OMIM: 609631, Gene2Phenotype
DDX58 is in 6 panels

1 review

Arina Puzriakova (Genomics England Curator)

Monoallelic gain-of-function variants are associated with Singleton-Merten syndrome 2 (MIM# 616298) with at least 5 unrelated families reported in literature (PMID: 25620203; 30574673; 33495304). Cognitive function is normal, and therefore a Red gene rating is appropriate on this panel.
Created: 5 Feb 2021, 11:29 a.m. | Last Modified: 5 Feb 2021, 11:29 a.m.
Panel Version: 3.761

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
OMIM
609631
Clinvar variants
Variants in DDX58
Penetrance
None
Panels with this gene

History Filter Activity

5 Feb 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: DDX58 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Sep 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: DDX58 was added gene: DDX58 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services Mode of inheritance for gene: DDX58 was set to