PanelApp (stage)
  1. Genes and Genomic Entities
  2. PIEZO1

PIEZO1

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green PIEZO1 in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.313

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lymphatic malformation 6, MIM# 616843

Green PIEZO1 in Lymphoedema_nonsyndromic


Level 2: Cardiovascular disorders
Version 0.39

Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PIEZO1 in Mendeliome


    Version 1.1891

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lymphatic malformation 6, 616843
    • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380
    • Erythrocytosis

    Green PIEZO1 in Lymphoedema_syndromic

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 0.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London South GLH
    • Expert list
    Phenotypes
    • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380
    • Lymphatic malformation 6 616843

    Green PIEZO1 in Red cell disorders


    Level 2: Haematological disorders
    Version 1.24

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Yorkshire and North East GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • North West GLH
    • London South GLH
    Phenotypes
    • Dehydrated hereditary stomatocytosis with or without pseudohyperkalaemia and/or perinatal oedema, MIM# 194380
    • Erythrocytosis

    Green PIEZO1 in Fetal anomalies


    Version 1.255

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM #194380
    • Lymphatic malformation 6, OMIM #616843

    No list PIEZO1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Lymphatic malformation 6, MIM#616843