Genomics England
GMS Panels
Panels
Genes and Entities

PIEZO1

piezo type mechanosensitive ion channel component 1
OMIM: 611184
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital lymphatic dysplasia with hydrops and/or lymphoedema
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM:194380, Lymphatic malformation 6, OMIM:616843, Congenital lymphatic dysplasia with hydrops and/or lymphoedema
Green
in Primary lymphoedema
R-numbers: R136
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Lymphatic malformation 6, OMIM:616843
Green
in Rare anaemia
R-numbers: R92
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM:194380, Hereditary xerocytosis