PanelApp
  1. Genes and Genomic Entities
  2. VDR

VDR

vitamin D receptor
OMIM: 601769, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green VDR in Mendeliome


Version 1.3499

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Rickets, vitamin D-resistant, type IIA, MIM# 277440

Green VDR in Calcium and Phosphate disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 1.28

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Rickets, vitamin D-resistant, type IIA, MIM# 277440

Green VDR in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.346

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert
  • Victorian Clinical Genetics Services
Phenotypes
  • Rickets, vitamin D-resistant, type IIA, 277440

Green VDR in Additional findings_Paediatric


Level 2: Screening
Version 0.278

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Vitamin D-dependent rickets

Red VDR in Fetal anomalies


Version 1.465

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Rickets, vitamin D-resistant, type IIA, MIM# 277440

Green VDR in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.140

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Rickets, vitamin D-resistant, type IIA MIM#277440
Tags
  • treatable
  • endocrine

Green VDR in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 1.22

Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_CalcPhos v38.1.0
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Rickets, vitamin D-resistant, type IIA, MIM# 277440

    Green VDR in Vitamin metabolism disorders


    Level 2: Metabolic disorders
    Version 1.7

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • vitamin D-dependent rickets, type 2A MONDO:0010186, Other disorders of vitamin metabolism