Microcephaly
Gene: DDX3XEnsemblGeneIds (GRCh38): ENSG00000215301
EnsemblGeneIds (GRCh37): ENSG00000215301
OMIM: 300160, Gene2Phenotype
DDX3X is in 10 panels
1 review
Lauren Rogers (Victorian Clinical Genetics Services)
PMID: 26235985 - microcephaly seen in 12/38 females with de novo DDX3X variants
Sources: LiteratureCreated: 2 Oct 2023, 11:29 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Snijders Blok-type X-linked syndromic intellectual developmental disorder (MIM#300958)
Publications
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 Green
- Phenotypes
-
- Snijders Blok-type X-linked syndromic intellectual developmental disorder (MIM#300958)
- OMIM
- 300160
- Clinvar variants
- Variants in DDX3X
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: ddx3x has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: ddx3x has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Lauren Rogers (Victorian Clinical Genetics Services)gene: DDX3X was added gene: DDX3X was added to Microcephaly. Sources: Literature Mode 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) Publications for gene: DDX3X were set to 26235985 Phenotypes for gene: DDX3X were set to Snijders Blok-type X-linked syndromic intellectual developmental disorder (MIM#300958) Review for gene: DDX3X was set to GREEN