TRPV6

transient receptor potential cation channel subfamily V member 6
OMIM: 606680, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green TRPV6 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.12

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hyperparathyroidism, transient neonatal, 618188

Amber TRPV6 in Pancreatitis


Version 2.10
Latest signed off version: v2.2 (3 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Chronic pancreatitis

Green TRPV6 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.97
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hyperparathyroidism, transient neonatal, 618188

    Green TRPV6 in Fetal anomalies


    Version 1.649
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Transient Neonatal Hyperparathyroidism
    • Hyperparathyroidism, transient neonatal, 618188

    Green TRPV6 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.13
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Hyperparathyroidism, transient neonatal, 618188

    Amber TRPV6 in DDG2P


    Version 2.27
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • DD-Gene2Phenotype
    Phenotypes
    • Transient Neonatal Hyperparathyroidism

    Green TRPV6 in Severe Paediatric Disorders


    Version 1.77

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hyperparathyroidism, transient neonatal, 618188