VDR

vitamin D receptor
OMIM: 601769, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green VDR in Hypophosphataemia or rickets


Level 2: Endocrine disorders; Skeletal disorders
Version 1.0

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

Green VDR in Mendeliome


Version 2.0

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 Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

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 1.0

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 2.0

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 2.0

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 2.0

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 2.0

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