PIEZO1

piezo type mechanosensitive ion channel component 1
OMIM: 611184
PanelMode of inheritanceDetails
3 panels
R-numbers: R21
Signed-off version 1.92
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
hydrops fetalis gene 616843, Congenital lymphatic dysplasia with hydrops and/or lymphoedema
R-numbers: R136
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380, Lymphatic malformation 6 616843
Green
in Rare anaemia
R-numbers: R92
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
194380 Stomatocytosis, 616843 Lymphatic malformation 6, 194380 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380, Stomatocytosis, Hereditary xerocytosis, Dehydrated hereditary stomatocytosis