PIEZO1

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green PIEZO1 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.29

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 1.87

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 1.24
Latest signed off version: v1.2 (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 1.691
Latest signed off version: v1.92 (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 2.39
Latest signed off version: v2.2 (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 2.13
    Latest signed off version: v2.2 (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 1.81

    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