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DDG2P v3.13 | NR5A1 | Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: NR5A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | NR5A1 | Achchuthan Shanmugasundram commented on gene: NR5A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | NR5A1 |
Achchuthan Shanmugasundram Source Expert Review Removed was added to NR5A1. Rating Changed from Green List (high evidence) to No List (delete) |
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DDG2P v1.131 | NR5A1 | Rebecca Foulger commented on gene: NR5A1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for 46XY SEX REVERSAL 3; SPERMATOGENIC FAILURE 8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.77 | NR5A1 |
Rebecca Foulger Source Expert Review Green was added to NR5A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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DDG2P v1.76 | NR5A1 | Rebecca Foulger commented on gene: NR5A1: 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 | NR5A1 | Rebecca Foulger commented on gene: NR5A1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for 46XY SEX REVERSAL 3; SPERMATOGENIC FAILURE 8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.94 | NR5A1 |
Rebecca Foulger Source Expert Review Amber was added to NR5A1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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DDG2P v0.2 | NR5A1 | Rebecca Foulger reviewed gene: NR5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | NR5A1 | Rebecca Foulger Added phenotypes SPERMATOGENIC FAILURE 8 613957 for gene: NR5A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | NR5A1 |
Rebecca Foulger gene: NR5A1 was added gene: NR5A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NR5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NR5A1 were set to 46XY SEX REVERSAL 3 612965 Mode of pathogenicity for gene: NR5A1 was set to Other - please provide details in the comments |