CYP24A1

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red CYP24A1 in Genomic imprinting


Version 0.104

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature

Green CYP24A1 in Nephrocalcinosis or nephrolithiasis

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 2.24
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Infantile Hypercalcemia
    • Hypercalcemia, infantile, 143880
    • Infantile hypercalcaemia

    Red CYP24A1 in DDG2P


    Version 2.44
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • Hereditary 1,25-dihydroxyvitamin D-resistant rickets

    Green CYP24A1 in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 2.27
    Latest signed off version: v2.23 (16 Oct 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Hypercalcemia, infantile, 1 143880

    Red CYP24A1 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.51
    Latest signed off version: v2.4 (17 Feb 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review Not set
    Sources
    • Expert list
    Phenotypes
    • Hypercalcemia, infantile, 1 143880