PIEZO2

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

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red PIEZO2 in Neuromuscular disorders


Version 5.241
Latest signed off version: v5.43 (4 Mar 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Arthrogryposis

Green PIEZO2 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.129
Latest signed off version: v3.2 (13 Feb 2020)

review 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

Green PIEZO2 in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.59
Latest signed off version: v2.2 (2 Mar 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • 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, 114300: Arthrogryposis, distal, type 5, 108145: Arthrogryposis, distal, with proprioception and touch, 617146

    Amber PIEZO2 in Ehlers Danlos syndromes

    Level 3: Connective tissues disorders
    Level 2: Rheumatological disorders
    Version 2.63
    Latest signed off version: v2.3 (4 Mar 2020)

    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


    Version 1.728
    Latest signed off version: v1.92 (21 Aug 2020)

    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 2.49
    Latest signed off version: v2.2 (13 Feb 2020)

    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 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.57
    Latest signed off version: v2.2 (4 Mar 2020)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1367
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 Severe Paediatric Disorders


    Version 1.84

    review 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