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Severe Paediatric Disorders v0.12 | PIEZO1 | Louise Daugherty reviewed gene: PIEZO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PIEZO1 | Louise Daugherty Publications for gene PIEZO1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PIEZO1 | Louise Daugherty Mode of inheritance for gene PIEZO1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | PIEZO1 | Louise Daugherty Added phenotypes Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Lymphatic malformation 6, 616843 for gene: PIEZO1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PIEZO1 | Louise Daugherty Added phenotypes Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Lymphatic malformation 6, 616843 for gene: PIEZO1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PIEZO1 | Louise Daugherty Added phenotypes Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Lymphatic malformation 6, 616843 for gene: PIEZO1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | PIEZO1 | Louise Daugherty Added phenotypes Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Lymphatic malformation 6, 616843 for gene: PIEZO1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | PIEZO1 | Louise Daugherty Source Next Generation Children Project was added to PIEZO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | PIEZO1 |
Louise Daugherty Source Expert Review Green was added to PIEZO1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | PIEZO1 |
Louise Daugherty gene: PIEZO1 was added gene: PIEZO1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: PIEZO1 was set to |