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
Green CYP24A1 in Nephrocalcinosis or nephrolithiasis


Level 2: Renal
Version 5.5
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  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
    Green CYP24A1 in Cystic kidney disease


    Level 2: Renal
    Version 8.5
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Unexplained young onset end-stage renal disease

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Hypercalcemia, infantile, 1, OMIM:143880
    • hypercalcemia, infantile, 1, MONDO:0020739
    Tags
    • Q1_26_MOI
    Red CYP24A1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • cystic kidney disease
    • hypercalcaemia
    • nephrocalcinosis
    Red CYP24A1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    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 2: Renal
    Version 5.11
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Hypercalcemia, infantile, 1 143880
    Red CYP24A1 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

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