FGF23

fibroblast growth factor 23
OMIM: 605380, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green FGF23 in Familial tumoral calcinosis


Version 1.7
Latest signed off version: v1.2 (19 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Tumoral calcinosis, hyperphosphatemic, familial, 2, OMIM:617993

Green FGF23 in Hypophosphataemia or rickets


Version 2.14
Latest signed off version: v2.2 (3 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Expert list
Phenotypes
  • Hypophosphatemic rickets, autosomal dominant (193100)

Red FGF23 in Nephrocalcinosis or nephrolithiasis

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 2.18
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert list
    Tags
    • watchlist

    Green FGF23 in Pigmentary skin disorders


    Version 1.10
    Latest signed off version: v1.4 (15 Oct 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Familial tumoural calcinosis
    • ADHR, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2
    • HFTC2
    • HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT

    Amber FGF23 in Rare genetic inflammatory skin disorders


    Version 1.38
    Latest signed off version: v1.6 (15 Oct 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber

    No list FGF23 in Multiple monogenic benign skin tumours


    Version 1.12
    Latest signed off version: v1.3 (15 Oct 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • London North GLH
    • NHS GMS
    Phenotypes
    • Familial tumoural calcinosis
    Tags
    • curated_removed

    Green FGF23 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Emory Genetics Laboratory
    Phenotypes
    • Hypophosphatemic rickets, autosomal dominant 193100
    • Osteomalacia, tumor-induced
    • Tumoral calcinosis, hyperphosphatemic, familial 211900

    Red FGF23 in Osteogenesis imperfecta

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

    review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias

    Green FGF23 in Severe Paediatric Disorders


    Version 1.76

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hypophosphatemic rickets, autosomal dominant, 193100
    • Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993
    • Osteomalacia, tumor-induced