| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Childhood onset hereditary spastic paraplegia v4.20 | DDX3X | Sarah Leigh Tag Q4_22_promote_green was removed from gene: DDX3X. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v4.20 | DDX3X | Sarah Leigh changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toX-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.; to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v4.20 | DDX3X | Sarah Leigh reviewed gene: DDX3X: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v4.19 | DDX3X |
Sarah Leigh 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) |
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| Childhood onset hereditary spastic paraplegia v3.5 | DDX3X | Arina Puzriakova Classified gene: DDX3X as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v3.5 | DDX3X | Arina Puzriakova Gene: ddx3x has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v3.4 | DDX3X | Arina Puzriakova Publications for gene: DDX3X were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v3.3 | DDX3X | Arina Puzriakova Classified gene: DDX3X as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v3.3 | DDX3X | Arina Puzriakova Gene: ddx3x has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v3.2 | DDX3X |
Arina Puzriakova changed review comment from: This gene is associated with a syndromic ID phenotype. A subset (~45%) of affected individuals develop movement disorders. 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; to: 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 |
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| Childhood onset hereditary spastic paraplegia v3.2 | DDX3X | Arina Puzriakova edited their review of gene: DDX3X: Changed publications to: 26235985, 29490693, 30936465, 32852922 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v3.2 | DDX3X |
Arina Puzriakova 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 Added comment: This gene is associated with a syndromic ID phenotype. A subset (~45%) of affected individuals develop movement disorders. 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 |
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