PIEZO1

piezo type mechanosensitive ion channel component 1
OMIM: 611184, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green PIEZO1 in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.28	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Lymphedema, hereditary, III, 616843 LMPH3 Hereditary lymphoedema type III 2nd trimester fetal hydrops, Nuchal translucency likely to be normal, Lethal and non lethal cases within the same family
Green PIEZO1 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.84	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green BRIDGE consortium (NIHRBR-RD) Phenotypes Stomatocytosis Dehydrated hereditary stomatocytosis Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 Hereditary xerocytosis
Green PIEZO1 in Rare anaemia Version 1.21 Signed off v.1.2 on 3 Mar 2020	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH 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
Green PIEZO1 in Fetal anomalies Version 1.641 Signed off v.1.92 on 21 Aug 2020	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green PAGE Additional Gene List PAGE DD-Gene2Phenotype Phenotypes hydrops fetalis gene 616843 Congenital lymphatic dysplasia with hydrops and/or lymphoedema
Amber PIEZO1 in DDG2P Version 2.25 Signed off v.2.2 on 13 Feb 2020 Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Amber Phenotypes Congenital lymphatic dysplasia with hydrops and/or lymphoedema
Green PIEZO1 in Primary lymphoedema Level 3: Lymphatic Disorders Level 2: Cardiovascular disorders Version 2.8 Signed off v.2.2 on 2 Mar 2020	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London South GLH Expert Review Green Expert list Phenotypes Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380 Lymphatic malformation 6 616843
Green PIEZO1 in Severe Paediatric Disorders Version 1.75	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 Lymphatic malformation 6, 616843