VDR

vitamin D receptor
OMIM: 601769, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green VDR in Hypophosphataemia or rickets


Level 2: Endocrinology
Version 4.3
Latest signed off version: v4.2 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Rickets, vitamin D-resistant, type IIA (277440)
Red VDR in Nephrocalcinosis or nephrolithiasis


Level 2: Renal
Version 6.1
Latest signed off version: v6.0 (6 May 2026)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert
    Red VDR in Pigmentary skin disorders


    Level 2: Dermatology
    Version 5.2
    Latest signed off version: v5.0 (6 May 2026)

    review Not set
    Sources
    • London North GLH
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Susceptibility to skin cancer
    No list VDR in Multiple monogenic benign skin tumours


    Level 2: Dermatology
    Version 2.6
    Latest signed off version: v2.5 (6 May 2026)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • London North GLH
    • NHS GMS
    Phenotypes
    • Susceptibility to skin cancer
    Tags
    • curated_removed
    Green VDR in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 9.9
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    Phenotypes
    • Rickets, vitamin D-resistant, type IIA, 277440
    Amber VDR in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.7
    Latest signed off version: v7.0 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • RICKETS VITAMIN D-DEPENDENT TYPE 2A
    Red VDR in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 6.1
    Latest signed off version: v6.0 (6 May 2026)

    review Not set
    Sources
    • Expert
    Green VDR in DDG2P


    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • RICKETS VITAMIN D-DEPENDENT TYPE 2A 277440
    Red VDR in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Gene2Phenotype confirmed gene with ID HPO