Activity
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13 actions
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| Paediatric pseudo-obstruction syndrome v0.216 | GFRA1 | Achchuthan Shanmugasundram commented on gene: GFRA1: The rating of this gene has been updated to Amber and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.51 | GFRA1 | Achchuthan Shanmugasundram Phenotypes for gene: GFRA1 were changed from to Susceptibility to Hirschsprung disease, MONDO:0100179 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.50 | GFRA1 | Achchuthan Shanmugasundram Publications for gene: GFRA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.49 | GFRA1 | Achchuthan Shanmugasundram Mode of inheritance for gene: GFRA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.48 | GFRA1 | Achchuthan Shanmugasundram Classified gene: GFRA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.48 | GFRA1 | Achchuthan Shanmugasundram Gene: gfra1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.47 | GFRA1 | Achchuthan Shanmugasundram Tag watchlist tag was added to gene: GFRA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.47 | GFRA1 | Achchuthan Shanmugasundram changed review comment from: Added watchlist tag as panel 63 to be notified of additional cases.; to: Added watchlist tag as in panel 63 to be notified of additional cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.47 | GFRA1 |
Achchuthan Shanmugasundram changed review comment from: Comment on classification of this gene: Tis gene should be rated AMBER as curated in Familial Hirschsprung Disease panel (https://panelapp.genomicsengland.co.uk/panels/63/gene/GFRA1/). There is only limited literature evidence to support a causation role in Hirschsprung disease. This gene is not associated with Susceptibility to Hirschsprung disease in OMIM yet.; to: Comment on classification of this gene: This gene should be rated AMBER as curated in Familial Hirschsprung Disease panel (https://panelapp.genomicsengland.co.uk/panels/63/gene/GFRA1/). There is only limited literature evidence to support a causation role in Hirschsprung disease. This gene has not yet been associated with Susceptibility to Hirschsprung disease in OMIM. |
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| Paediatric pseudo-obstruction syndrome v0.47 | GFRA1 | Achchuthan Shanmugasundram commented on gene: GFRA1: Added watchlist tag as panel 63 to be notified of additional cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.46 | GFRA1 | Achchuthan Shanmugasundram reviewed gene: GFRA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28543993, 27370713, 9545641, 17507417, 12624147; Phenotypes: Susceptibility to Hirschsprung disease, MONDO:0100179; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | GFRA1 | Eleanor Williams reviewed gene: GFRA1: Rating: ; Mode of pathogenicity: ; Publications: 30663199; Phenotypes: Effect on ENS development; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.1 | GFRA1 |
Eleanor Williams gene: GFRA1 was added gene: GFRA1 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: GFRA1 was set to |
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