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Primary lymphoedema v1.88 PIEZO1 Sahar Mansour reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380, Lymphatic malformation 6 616843; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary lymphoedema v1.84 PIEZO1 Sarah Leigh changed review comment from: Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 7 variants reported; to: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 7 variants reported in Lymphatic malformation 6 616843
Primary lymphoedema v1.84 PIEZO1 Sarah Leigh Deleted their comment
Primary lymphoedema v1.84 PIEZO1 Sarah Leigh Added comment: Comment on phenotypes: Lymphatic malformation 6 616843 was previously known as Lymphedema, hereditary, III 616843
Primary lymphoedema v1.84 PIEZO1 Sarah Leigh Phenotypes for gene: PIEZO1 were changed from Lymphedema, hereditary, III 616843; Generalised lymphatic dysplasia to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380; Lymphatic malformation 6 616843
Primary lymphoedema v1.83 PIEZO1 Sarah Leigh Mode of inheritance for gene PIEZO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary lymphoedema v1.42 PIEZO1 Sarah Leigh Phenotypes for gene: PIEZO1 were changed from Lymphedema, hereditary, III 616843; Generalised lymphatic dysplasia to Lymphedema, hereditary, III 616843; Generalised lymphatic dysplasia
Primary lymphoedema v1.35 PIEZO1 Ellen McDonagh reviewed gene: PIEZO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary lymphoedema v1.34 PIEZO1 Ellen McDonagh Source London South GLH was added to PIEZO1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Primary lymphoedema PIEZO1 Sarah Leigh marked PIEZO1 as ready
Primary lymphoedema PIEZO1 Sarah Leigh commented on PIEZO1