FGF23:Ensemblv90

fibroblast growth factor 23
OMIM: 605380, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green FGF23 in Mendeliome


Version 1.3802

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • autosomal dominant hypophosphatemic rickets MONDO:0008660
  • familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251

Green FGF23 in Calcium and Phosphate disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 1.29

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Phenotypes
  • autosomal dominant hypophosphatemic rickets MONDO:0008660
  • familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251

Green FGF23 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.365

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

Green FGF23 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • autosomal dominant hypophosphatemic rickets MONDO:0008660
  • familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251
Tags
  • treatable
  • endocrine

Green FGF23 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 1.22

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • 1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_CalcPhos v38.1.0
    • Expert Review Green
    Phenotypes
    • autosomal dominant hypophosphatemic rickets MONDO:0008660
    • familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251

    Green FGF23 in Calcium and Phosphate disorders


    Level 2: Renal and urinary tract disorders; Endocrine disorders
    Version 2.0

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • KidGen_CalcPhos v38.1.0
    • Expert Review Green
    Phenotypes
    • autosomal dominant hypophosphatemic rickets MONDO:0008660
    • familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251

    Green FGF23 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.0

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

    Green FGF23 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.0

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • autosomal dominant hypophosphatemic rickets MONDO:0008660
    • familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251
    Tags
    • treatable
    • endocrine

    Green FGF23 in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 2.0

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_CalcPhos v38.1.0
    • Expert Review Green
    Phenotypes
    • autosomal dominant hypophosphatemic rickets MONDO:0008660
    • familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251