TRPV6

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green TRPV6 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.24

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hyperparathyroidism, transient neonatal, 618188
Amber TRPV6 in Pancreatitis


Level 2: Gastrohepatology
Version 3.5
Latest signed off version: v3.0 (30 Nov 2022)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Chronic pancreatitis
Green TRPV6 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

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


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Transient Neonatal Hyperparathyroidism
    • Hyperparathyroidism, transient neonatal, 618188
    Green TRPV6 in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 5.4
    Latest signed off version: v5.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Hyperparathyroidism, transient neonatal, 618188
    Green TRPV6 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

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