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| Paediatric pseudo-obstruction syndrome v0.216 | DDX3X | Achchuthan Shanmugasundram reviewed gene: DDX3X: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.68 | DDX3X | Arina Puzriakova Publications for gene: DDX3X were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.67 | DDX3X | Arina Puzriakova Classified gene: DDX3X as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.67 | DDX3X | Arina Puzriakova Added comment: Comment on list classification: This gene is associated with a syndromic ID phenotype. Gastrointestinal disturbances were exhibited by one patient with severe constipation and a recurrent paralytic ileus (PMID: 32896648), and another patient with persistent gastro-oesophageal reflux (PMID: 30734472) although the latter isn't within the scope of this panel. Based on only one individual found displaying a phenotype that is relevant to this panel, recommending this gene is rated Red until further cases are reported. Cases are more likely to be picked up via other routes such as the ID panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.67 | DDX3X | Arina Puzriakova Gene: ddx3x has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.62 | DDX3X | Arina Puzriakova Phenotypes for gene: DDX3X were changed from Intellectual developmental disorder, X-linked syndromic, Snijders Blok type 300958 to Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.61 | DDX3X | Arina Puzriakova Mode of inheritance for gene: DDX3X was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.60 | DDX3X | Arina Puzriakova Phenotypes for gene: DDX3X were changed from to Intellectual developmental disorder, X-linked syndromic, Snijders Blok type 300958 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | DDX3X | Eleanor Williams reviewed gene: DDX3X: Rating: ; Mode of pathogenicity: ; Publications: 32896648; Phenotypes: Psychomotor retardation, severe constipation, and a recurrent paralytic ileus.; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.1 | DDX3X |
Eleanor Williams gene: DDX3X was added gene: DDX3X was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: DDX3X was set to |
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