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This Panel is marked as Internal

Intellectual_disability
Gene: DDX3X

DDX3X (DEAD-box helicase 3, X-linked)
EnsemblGeneIds (GRCh38): ENSG00000215301
EnsemblGeneIds (GRCh37): ENSG00000215301
OMIM: 300160, Gene2Phenotype
DDX3X is in 9 panels

0 reviews

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

Literature
Expert Review
Candidate gene (Grozeva et al, 2015)
Literature

Phenotypes

ID, microcephaly
Intellectual disability

OMIM

Clinvar variants

Variants in DDX3X

Penetrance

Complete

Panels with this gene

History Filter Activity

21 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DDX3X was added to Intellectual_disabilitypanel. Source: Candidate gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DDX3X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DDX3X was added to Intellectual_disabilitypanel. Source: Candidate gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DDX3X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DDX3X was added to Intellectual_disabilitypanel. Source: Literature

8 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DDX3X was added to Intellectual_disabilitypanel. Sources: Expert Review, Literature