Paediatric pseudo-obstruction syndrome
Gene: DDX3X
The rating of this gene has been updated to Red 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: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.
Panel Version: 0.216
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.Created: 21 Dec 2022, 11:56 a.m. | Last Modified: 21 Dec 2022, 11:56 a.m.
Panel Version: 0.67
Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Other primary PIPO with identified genetic mutations. Protein function: encodes the DEAD box RNA helicase.Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2
Mode of inheritance
Unknown
Phenotypes
Psychomotor retardation, severe constipation, and a recurrent paralytic ileus.
Publications
Publications for gene: DDX3X were set to
Gene: ddx3x has been classified as Red List (Low Evidence).
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
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)
Phenotypes for gene: DDX3X were changed from to Intellectual developmental disorder, X-linked syndromic, Snijders Blok type 300958
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