Paediatric pseudo-obstruction syndrome
Gene: BCR
The rating of this gene has been updated to Red and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' 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: Not associated with any relevant phenotype in OMIM or G2P. Only a single patient has been reported in literature (PMID: 34190380) with paediatric intestinal pseudo-obstruction and a heterozygous de novo variant (c.3072+1G>A). Bcr null mice did display growth retardation and impaired gastrointestinal motility but additional patients required prior to adding as diagnostic-grade.Created: 20 Dec 2022, 4:41 p.m. | Last Modified: 20 Dec 2022, 4:41 p.m.
Panel Version: 0.17
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: fusion protein with c-Abl tyrosine kinase.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
Growth retardation and impaired gastrointestinal motility
Publications
Gene: bcr has been classified as Red List (Low Evidence).
Phenotypes for gene: BCR were changed from to Paediatric intestinal pseudo-obstruction
Mode of inheritance for gene: BCR was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BCR were set to
gene: BCR was added gene: BCR was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: BCR was set to