Primary lymphoedema

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 6 panels

4 reviews

Sahar Mansour (St George's Hospital, London)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380; Lymphatic malformation 6 616843

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.

Pia Ostergaard (St George's)

Green List (high evidence)

Mode of inheritance
Unknown

Phenotypes
Primary Lymphoedema; generalised lymphatic dysplasia

Publications

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Lymphatic malformation 6 616843 was previously known as Lymphedema, hereditary, III 616843
Created: 24 Jul 2019, 9:37 a.m. | Last Modified: 24 Jul 2019, 9:37 a.m.
Panel Version: 1.84
Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 7 variants reported in Lymphatic malformation 6 616843
Created: 2 Nov 2016, 10:58 a.m. | Last Modified: 24 Jul 2019, 9:54 a.m.
Panel Version: 1.84

Details

Mode of Inheritance
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
OMIM
611184
Clinvar variants
Variants in PIEZO1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

24 Jul 2019, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PIEZO1 were changed from Lymphedema, hereditary, III 616843; Generalised lymphatic dysplasia to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380; Lymphatic malformation 6 616843

23 Jul 2019, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene PIEZO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

19 Jun 2019, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PIEZO1 were changed from Lymphedema, hereditary, III 616843; Generalised lymphatic dysplasia to Lymphedema, hereditary, III 616843; Generalised lymphatic dysplasia

20 Feb 2019, Gel status: 3

Added New Source, Status Update

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to PIEZO1. Rating Changed from Green List (high evidence) to Green List (high evidence)

2 Nov 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

A combined panel for lymphatic disorders - Meiges disease - Milroy disease - Lymphoedema distichiasis Promoted to V1 02/11/2016

2 Nov 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for PIEZO1 was changed to BIALLELIC, autosomal or pseudoautosomal

2 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Nov 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PIEZO1 were set to Lymphedema, hereditary, III 616843; Generalised lymphatic dysplasia

2 Nov 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PIEZO1 were set to 26333996; 26387913

2 Nov 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PIEZO1 were set to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380; Lymphedema, hereditary, III 616843; Generalised lymphatic dysplasia

30 Sep 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

PIEZO1 was added to Lymphatic Disorderspanel. Sources: Expert list,Expert Review Green

30 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PIEZO1 was created by sleigh