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  2. Lymphoedema_syndromic
  3. PIEZO1
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Lymphoedema_syndromic

Gene: PIEZO1

Green List (high evidence)
PIEZO1 (piezo type mechanosensitive ion channel component 1)
EnsemblGeneIds (GRCh38): ENSG00000103335
EnsemblGeneIds (GRCh37): ENSG00000103335
OMIM: 611184, Gene2Phenotype
PIEZO1 is in 7 panels

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Details

Mode of Inheritance
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
OMIM
611184
Clinvar variants
Variants in PIEZO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sue White (Victorian Clinical Genetics Services)

gene: PIEZO1 was added gene: PIEZO1 was added to Lymphoedema_syndromic. Sources: Expert list,London South GLH,Expert Review Green Mode of inheritance for gene: PIEZO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PIEZO1 were set to 26333996; 26387913 Phenotypes for gene: PIEZO1 were set to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380; Lymphatic malformation 6 616843