Arthrogryposis
Gene: PIEZO2The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.Created: 3 Aug 2022, 3:18 p.m. | Last Modified: 3 Aug 2022, 3:18 p.m.
Panel Version: 3.161
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 11:29 a.m. | Last Modified: 9 Mar 2022, 11:29 a.m.
Panel Version: 3.152
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.
Mode of inheritance for gene PIEZO2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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.
PIEZO2 was added to Arthrogryposispanel. Source: Expert list
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PIEZO2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
PIEZO2 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen