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| DDG2P v3.12 | ALAD | Achchuthan Shanmugasundram reviewed gene: ALAD: Rating: RED; Mode of pathogenicity: Other; Publications: 2063868; Phenotypes: ACUTE HEPATIC PORPHYRIA, OMIM:612740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ALAD |
Achchuthan Shanmugasundram Source Expert Review Red was added to ALAD. Mode of pathogenicity for gene ALAD was changed from Other - please provide details in the comments to Other Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| DDG2P v1.131 | ALAD | Rebecca Foulger commented on gene: ALAD: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for ACUTE HEPATIC PORPHYRIA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.77 | ALAD |
Rebecca Foulger Source Expert Review Green was added to ALAD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.76 | ALAD | Rebecca Foulger commented on gene: ALAD: 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 | ALAD | Rebecca Foulger commented on gene: ALAD: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for ACUTE HEPATIC PORPHYRIA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.94 | ALAD |
Rebecca Foulger Source Expert Review Amber was added to ALAD. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| DDG2P v0.2 | ALAD | Rebecca Foulger reviewed gene: ALAD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ALAD |
Rebecca Foulger gene: ALAD was added gene: ALAD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALAD were set to 2063868 Phenotypes for gene: ALAD were set to ACUTE HEPATIC PORPHYRIA 612740 Mode of pathogenicity for gene: ALAD was set to Other - please provide details in the comments |
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