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| DDG2P v3.12 | AGXT | Achchuthan Shanmugasundram reviewed gene: AGXT: Rating: GREEN; Mode of pathogenicity: ; Publications: 8101040; Phenotypes: HYPEROXALURIA, PRIMARY, TYPE 1, OMIM:259900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | AGXT | Rebecca Foulger commented on gene: AGXT: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for HYPEROXALURIA, PRIMARY, TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.77 | AGXT |
Rebecca Foulger Source Expert Review Green was added to AGXT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.76 | AGXT | Rebecca Foulger commented on gene: AGXT: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | AGXT | Rebecca Foulger commented on gene: AGXT: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for HYPEROXALURIA, PRIMARY, TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.94 | AGXT |
Rebecca Foulger Source Expert Review Amber was added to AGXT. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| DDG2P v0.2 | AGXT | Rebecca Foulger reviewed gene: AGXT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | AGXT |
Rebecca Foulger gene: AGXT was added gene: AGXT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGXT were set to 8101040 Phenotypes for gene: AGXT were set to HYPEROXALURIA, PRIMARY, TYPE 1 259900 |
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