Genomics England
GMS Panels
Panels
Genes and Entities

VDR

vitamin D receptor
OMIM: 601769
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RICKETS VITAMIN D-DEPENDENT TYPE 2A 277440
Green
in Hypophosphataemia or rickets
R-numbers: R154
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rickets, vitamin D-resistant, type IIA (277440)
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rickets, vitamin D-resistant, type IIA, 277440