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Arthrogryposis

Gene: PIEZO2

Green List (high evidence)

PIEZO2 (piezo type mechanosensitive ion channel component 2)
EnsemblGeneIds (GRCh38): ENSG00000154864
EnsemblGeneIds (GRCh37): ENSG00000154864
OMIM: 613629, Gene2Phenotype
PIEZO2 is in 9 panels

2 reviews

julien thevenon (CHU de Dijon)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Heterozygous cases.
Created: 3 May 2016, 1:27 p.m.
Comment on list classification: Has a green review and is a confirmed DD gene for arthrogryposis, distal, type 3. More than 3 unrelated cases on OMIM, with different variants reported.
Created: 3 May 2016, 1:27 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Marden-Walker syndrome, 248700
  • Arthrogryposis, distal, type 3, 114300
  • Arthrogryposis, distal, type 5, 108145
OMIM
613629
Clinvar variants
Variants in PIEZO2
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

21 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PIEZO2 was added to Arthrogryposispanel. Source: Expert list

3 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

3 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PIEZO2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

3 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

28 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

PIEZO2 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen