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| Paediatric pseudo-obstruction syndrome v0.216 | BCR | Achchuthan Shanmugasundram reviewed gene: BCR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.17 | BCR | Arina Puzriakova Classified gene: BCR as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.17 | BCR | Arina Puzriakova Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.17 | BCR | Arina Puzriakova Gene: bcr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.16 | BCR | Arina Puzriakova Phenotypes for gene: BCR were changed from to Paediatric intestinal pseudo-obstruction | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.15 | BCR | Arina Puzriakova Mode of inheritance for gene: BCR was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.14 | BCR | Arina Puzriakova Publications for gene: BCR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | BCR | Eleanor Williams reviewed gene: BCR: Rating: ; Mode of pathogenicity: ; Publications: 34190380; Phenotypes: Growth retardation and impaired gastrointestinal motility; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.1 | BCR |
Eleanor Williams 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 |
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