Speech apraxia
Gene: DDX3XEnsemblGeneIds (GRCh38): ENSG00000215301
EnsemblGeneIds (GRCh37): ENSG00000215301
OMIM: 300160, Gene2Phenotype
DDX3X is in 10 panels
1 review
Thomas Scerri (Murdoch Children's Research Institute)
Hildebrand et al. (2020; PMID: 32345733) report the first CAS case has a de novo DDX3X frameshift variant.
Kaspi et al. (2022; PMID: 36117209) report a case with dysarthria and a de novo DDX3X nonsense variant.
An independent (unpublished) in-house CAS proband has a de novo DDX3X nonsense variant.
Parra et al. (2024; PMID: 37904618) report thirty-four independent probands with DDX3X mutations for which "the most frequent clinical features (>70%) identified in these patients included speech dyspraxia (88.2%; 30/34)".
Sources: Expert list, Expert ReviewCreated: 25 Jun 2024, 6:18 a.m. | Last Modified: 1 Jul 2024, 10:07 a.m.
Panel Version: 0.38
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
Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, 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
-
- Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ddx3x has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ddx3x has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Thomas Scerri (Murdoch Children's Research Institute)gene: DDX3X was added gene: DDX3X was added to Speech apraxia. Sources: Expert list,Expert Review 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 32345733; 36117209; 37904618 Phenotypes for gene: DDX3X were set to Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, MIM# 300958 Review for gene: DDX3X was set to GREEN