Activity
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4 actions
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| DDG2P v3.12 | PIEZO1 | Achchuthan Shanmugasundram reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26387913; Phenotypes: Congenital lymphatic dysplasia with hydrops and/or lymphoedema; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PIEZO1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PIEZO1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | PIEZO1 | Rebecca Foulger reviewed gene: PIEZO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PIEZO1 |
Rebecca Foulger gene: PIEZO1 was added gene: PIEZO1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PIEZO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIEZO1 were set to 26387913 Phenotypes for gene: PIEZO1 were set to Congenital lymphatic dysplasia with hydrops and/or lymphoedema |
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