1. Genes and Genomic Entities
  2. CYP24A1

CYP24A1

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red CYP24A1 in Genomic imprinting


Version 0.149

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 4.13
Latest signed off version: v4.0 (22 Mar 2023)

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
    Amber CYP24A1 in Unexplained young onset end-stage renal disease


    Version 3.42
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Infantile hypercalcaemia
    • Infantile Hypercalcemia
    • Hypercalcemia, infantile, 143880
    Tags
    • Q4_23_promote_green
    Red CYP24A1 in DDG2P


    Version 3.90
    Latest signed off version: v3.1 (22 Mar 2023)

    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 4.17
    Latest signed off version: v4.0 (22 Mar 2023)

    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 4.169
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review Not set
    Sources
    • Expert list
    Phenotypes
    • Hypercalcemia, infantile, 1 143880