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| Paediatric pseudo-obstruction syndrome v0.216 | GDNF | Achchuthan Shanmugasundram commented on gene: GDNF: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.198 | KIF26A | Arina Puzriakova Phenotypes for gene: KIF26A were changed from to GDNF-Ret in ENS development | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.38 | GDNF | Achchuthan Shanmugasundram Phenotypes for gene: GDNF were changed from to {Hirschsprung disease, susceptibility to, 3}, OMIM:613711 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.37 | GDNF | Achchuthan Shanmugasundram Mode of inheritance for gene: GDNF was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.36 | GDNF | Achchuthan Shanmugasundram reviewed gene: GDNF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hirschsprung disease, susceptibility to, 3}, OMIM:613711; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | KIF26A | Eleanor Williams reviewed gene: KIF26A: Rating: ; Mode of pathogenicity: ; Publications: 30663199; Phenotypes: GDNF-Ret in ENS development; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | GDNF | Eleanor Williams reviewed gene: GDNF: Rating: ; Mode of pathogenicity: ; Publications: 21858136; Phenotypes: Long segment megacolon, HSCR; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.1 | GDNF |
Eleanor Williams gene: GDNF was added gene: GDNF was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: GDNF was set to |
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