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| Paediatric pseudo-obstruction syndrome v0.216 | PDCL3 | Achchuthan Shanmugasundram commented on gene: PDCL3: The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.100 | PDCL3 | Achchuthan Shanmugasundram Phenotypes for gene: PDCL3 were changed from to Megacystis-microcolon-intestinal hypoperistalsis syndrome, MONDO:0025986 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.99 | PDCL3 | Achchuthan Shanmugasundram Publications for gene: PDCL3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.98 | PDCL3 | Achchuthan Shanmugasundram Mode of inheritance for gene: PDCL3 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.97 | PDCL3 | Achchuthan Shanmugasundram reviewed gene: PDCL3: Rating: RED; Mode of pathogenicity: None; Publications: 32621347; Phenotypes: megacystis-microcolon-intestinal hypoperistalsis syndrome, MONDO:0025986; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | PDCL3 | Eleanor Williams reviewed gene: PDCL3: Rating: ; Mode of pathogenicity: ; Publications: 32621347; Phenotypes: Loss-of-function of this protein affects the contractility of smooth muscle tissues; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.1 | PDCL3 |
Eleanor Williams gene: PDCL3 was added gene: PDCL3 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: PDCL3 was set to |
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