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  2. Childhood onset hereditary spastic paraplegia
  3. DDX3X

Childhood onset hereditary spastic paraplegia

Gene: DDX3X

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

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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)

Created: 10 Oct 2023, 5:14 p.m.
Last Modified: 10 Oct 2023, 5:16 p.m.
Panel version: 4.20

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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: Literature
Created: 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

Created: 21 Dec 2022, 12:22 p.m.
Last Modified: 21 Dec 2022, 12:23 p.m.
Panel version: 3.2

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
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958
OMIM
300160
Clinvar variants
Variants in DDX3X
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Oct 2023, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q4_22_promote_green was removed from gene: DDX3X.

10 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

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)

21 Dec 2022, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ddx3x has been classified as Amber List (Moderate Evidence).

21 Dec 2022, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: DDX3X were set to

21 Dec 2022, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ddx3x has been classified as Red List (Low Evidence).

21 Dec 2022, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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