Childhood onset hereditary spastic paraplegia
Gene: DDX3X
The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.Created: 10 Oct 2023, 5:14 p.m. | Last Modified: 10 Oct 2023, 5:16 p.m.
Panel Version: 4.20
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
This gene is associated with a syndromic ID phenotype. A subset (~45%) of affected individuals develop a movement disorder. This can comprise progressive spasticity which in some cases forms a presenting feature that is as key as ID, indicating that inclusion of DDX3X on this panel is likely to be beneficial in a diagnostic setting. Therefore, recommending that this gene is rated Green at the next GMS panel update.
Sources: LiteratureCreated: 21 Dec 2022, 12:22 p.m. | Last Modified: 21 Dec 2022, 12:23 p.m.
Panel Version: 3.2
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, OMIM:300958
Publications
Tag Q4_22_promote_green was removed from gene: DDX3X.
Source Expert Review Green was added to DDX3X. Source NHS GMS was added to DDX3X. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: ddx3x has been classified as Amber List (Moderate Evidence).
Publications for gene: DDX3X were set to
Gene: ddx3x has been classified as Red List (Low Evidence).
gene: DDX3X was added gene: DDX3X was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature Q4_22_promote_green tags were added to gene: DDX3X. 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) Phenotypes for gene: DDX3X were set to Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958 Review for gene: DDX3X was set to GREEN