Primary lymphoedema

Gene: PIEZO1

After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'.

Created: 30 Jan 2023, 3:23 p.m. | Last Modified: 30 Jan 2023, 3:23 p.m.

Panel Version: 3.2

Comment on mode of inheritance: MOI should be updated from 'Both mono- and biallelic' to 'Biallelic' only at the next GMS review. Monoallelic variants are associated with hereditary xerocytosis (MIM# 194380), a phenotype that is not relevant to this panel.

Created: 8 Dec 2021, 11:37 a.m. | Last Modified: 8 Dec 2021, 11:37 a.m.

Panel Version: 2.20

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

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.

Green List (high evidence)

Mode of inheritance
Unknown

Phenotypes
Primary Lymphoedema; generalised lymphatic dysplasia

Publications

• [PMID: 26333996
• 26387913]

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