1. Genes and Genomic Entities
  2. PIEZO2

PIEZO2

piezo type mechanosensitive ion channel component 2
OMIM: 613629, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green PIEZO2 in Arthrogryposis


Level 2: Neurology
Version 9.32
Latest signed off version: v9.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Green PIEZO2 in Congenital myopathy


Level 2: Neurology
Version 6.45
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London South GLH
    • Expert Review
    Phenotypes
    • Arthrogryposis, distal, type 3, OMIM:114300: Arthrogryposis, distal, type 5, OMIM:108145: Arthrogryposis, distal, with proprioception and touch, OMIM:617146
    Amber PIEZO2 in Ehlers Danlos syndrome with a likely monogenic cause


    Level 2: Musculoskeletal
    Version 4.8
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • ?Marden-Walker syndrome, OMIM:248700
    • connective tissue disease, MONDO:0003900
    Green PIEZO2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.185
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ARTHROGRYPOSIS, DISTAL, TYPE 3
    • Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception
    Green PIEZO2 in DDG2P


    Version 6.447
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ARTHROGRYPOSIS, DISTAL, TYPE 3 114300
    • Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception
    Green PIEZO2 in Clefting


    Level 2: Musculoskeletal
    Version 6.23
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • ARTHROGRYPOSIS, DISTAL, TYPE 3
    • DA3, MARDEN-WALKER SYNDROME
    • MWKS
    Red PIEZO2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.370
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Gene2Phenotype confirmed gene with ID HPO
    Green PIEZO2 in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.45
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Arthrogryposis, distal, with impaired proprioception and touch, OMIM:617146