Ehlers Danlos syndromesGene: PIEZO2
Comment on phenotypes: added additional phenotype to make inclusion on panel clearer
Created: 3 Oct 2017, 3:50 p.m.
pers comm EDS service clinician noted that there is overlap between Marden-Walker syndrome and the rare Kyphoscoliotic EDS in terms of scoliosis.
Created: 3 Oct 2017, 3:27 p.m.
In view of the overlap with scoliosis it was decided with the clinical team that PIEZO2 should be added to the EDS panel
Created: 3 Oct 2017, 3:26 p.m.
Comment on list classification: Changed from Red to Amber an there is a single reported case in the literature and an unreported case from discussions with a colleague.
Created: 3 Oct 2017, 3:18 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Marden-Walker syndrome, 248700
Phenotypes for gene: PIEZO2 were changed from Marden-Walker syndrome, 248700; Connective tissue disorder to ?Marden-Walker syndrome, OMIM:248700; connective tissue disease, MONDO:0003900
Phenotypes for PIEZO2 were set to Marden-Walker syndrome, 248700; Connective tissue disorder
This gene has been classified as Amber List (Moderate Evidence).
PIEZO2 was created by LouiseD
PIEZO2 was added to Ehlers-Danlos syndromespanel. Sources: Expert Review