Primary lymphoedema
Gene: PIEZO1After 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
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
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.
Comment on phenotypes: Lymphatic malformation 6 616843 was previously known as Lymphedema, hereditary, III 616843Created: 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 616843Created: 2 Nov 2016, 10:58 a.m. | Last Modified: 24 Jul 2019, 9:54 a.m.
Panel Version: 1.84
Tag Q4_21_MOI was removed from gene: PIEZO1.
Mode of inheritance for gene: PIEZO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q4_21_MOI tag was added to gene: PIEZO1.
Phenotypes for gene: PIEZO1 were changed from Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380; Lymphatic malformation 6 616843 to Lymphatic malformation 6, OMIM:616843
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
Mode of inheritance for gene PIEZO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PIEZO1 were changed from Lymphedema, hereditary, III 616843; Generalised lymphatic dysplasia to Lymphedema, hereditary, III 616843; Generalised lymphatic dysplasia
Source London South GLH was added to PIEZO1. Rating Changed from Green List (high evidence) to Green List (high evidence)
A combined panel for lymphatic disorders - Meiges disease - Milroy disease - Lymphoedema distichiasis Promoted to V1 02/11/2016
Mode of inheritance for PIEZO1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Phenotypes for PIEZO1 were set to Lymphedema, hereditary, III 616843; Generalised lymphatic dysplasia
Publications for PIEZO1 were set to 26333996; 26387913
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
PIEZO1 was added to Lymphatic Disorderspanel. Sources: Expert list,Expert Review Green
PIEZO1 was created by sleigh