Genomics England
GMS Panels
Panels
Genes and Entities

CYP2R1

cytochrome P450 family 2 subfamily R member 1
OMIM: 608713
PanelMode of inheritanceDetails
2 panels
Green
in Hypophosphataemia or rickets
R-numbers: R154
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rickets due to defect in vitamin D 25-hydroxylation (600081)
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rickets due to defect in vitamin D 25-hydroxylation, 600081