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Severe Paediatric Disorders

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 8 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PIEZO2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Arthrogryposis, distal, type 3, 114300 (3) | Arthrogryposis, distal, type 5, 108145 (3) | Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3) | ?Marden-Walker syndrome, 248700 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal recessive | Autosomal dominant
Created: 20 Feb 2020, 5:23 p.m. | Last Modified: 20 Feb 2020, 5:23 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • ?Marden-Walker syndrome, 248700
  • Arthrogryposis, distal, type 3, 114300
  • Arthrogryposis, distal, type 5, 108145
  • Arthrogryposis, distal, with impaired proprioception and touch, 617146
OMIM
613629
Clinvar variants
Variants in PIEZO2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3