KL

klotho
OMIM: 604824, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber KL in Mendeliome


Version 1.1902

review Unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994
  • Hyperphosphatemia

Amber KL in Calcium and Phosphate disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 1.24

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • KidGen_CalcPhos v38.1.0
Phenotypes
  • Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994
  • Hyperphosphatemia

Amber KL in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 1.14

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • KidGen_CalcPhos v38.1.0
    • Expert Review Amber
    Phenotypes
    • Hyperphosphatemia
    • Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994