Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.216 | NKX2-1 | Achchuthan Shanmugasundram commented on gene: NKX2-1: 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 v0.203 | NKX2-1 | Arina Puzriakova Publications for gene: NKX2-1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.202 | NKX2-1 | Arina Puzriakova Phenotypes for gene: NKX2-1 were changed from to Megacolon, oesophageal atresia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.201 | NKX2-1 | Arina Puzriakova Mode of inheritance for gene: NKX2-1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.97 | NKX2-1 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: Not associated with any relevant phenotype in OMIM or G2P. PMID:30663199 does not report any cases associated with NKX2-1 and a quick literature search did not find any literature making an association. So, this gene should be rated as RED.; to: Comment on list classification: The phenotypes that are reported in OMIM or G2P are not relevant to this panel. PMID:30663199 does not report any cases associated with NKX2-1 and a quick literature search did not find any literature making an association. So, this gene should be rated as RED. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.97 | NKX2-1 | Achchuthan Shanmugasundram reviewed gene: NKX2-1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | NKX2-1 | Eleanor Williams reviewed gene: NKX2-1: Rating: ; Mode of pathogenicity: ; Publications: 30663199; Phenotypes: Megacolon, oesophageal atresia; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.1 | NKX2-1 |
Eleanor Williams gene: NKX2-1 was added gene: NKX2-1 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: NKX2-1 was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||