PanelApp (test)
  1. Genes and Genomic Entities
  2. CYP24A1

CYP24A1

cytochrome P450 family 24 subfamily A member 1
OMIM: 126065, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CYP24A1 in Hypercalcaemia


Level 2: Endocrine disorders
Version 1.2

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypercalcaemia, infantile, 1, MIM# 143880
  • MONDO:0020739

Green CYP24A1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypercalcaemia, infantile, 1, MIM# 143880
  • MONDO:0020739

Green CYP24A1 in Calcium and Phosphate disorders


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Phenotypes
  • Hypercalcaemia, infantile, 1, MIM# 143880
  • MONDO:0020739

Green CYP24A1 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_CalcPhos v38.1.0
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypercalcaemia, infantile, 1, MIM# 143880
    • MONDO:0020739

    Green CYP24A1 in Vitamin metabolism disorders


    Level 2: Metabolic disorders
    Version 1.6

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Other disorders of vitamin metabolism
    • hypercalcemia, infantile, 1 MONDO:0020739