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  2. Ehlers Danlos syndrome with a likely monogenic cause
  3. PIEZO2
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Ehlers Danlos syndrome with a likely monogenic cause

Gene: PIEZO2

Amber List (moderate evidence)
PIEZO2 (piezo type mechanosensitive ion channel component 2)
EnsemblGeneIds (GRCh38): ENSG00000154864
EnsemblGeneIds (GRCh37): ENSG00000154864
OMIM: 613629, Gene2Phenotype
PIEZO2 is in 8 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

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

Phenotypes
Marden-Walker syndrome, 248700

Publications

Created: 3 Oct 2017, 3:26 p.m.

Panel version: 1.14

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • ?Marden-Walker syndrome, OMIM:248700
  • connective tissue disease, MONDO:0003900
OMIM
613629
Clinvar variants
Variants in PIEZO2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

3 Oct 2017, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PIEZO2 were set to Marden-Walker syndrome, 248700; Connective tissue disorder

3 Oct 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

3 Oct 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

PIEZO2 was created by LouiseD

3 Oct 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

PIEZO2 was added to Ehlers-Danlos syndromespanel. Sources: Expert Review