Genomics England
GMS Panels
Panels
Genes and Entities

CYP27B1

cytochrome P450 family 27 subfamily B member 1
OMIM: 609506
PanelMode of inheritanceDetails
2 panels
Green
in Hypophosphataemia or rickets
R-numbers: R154
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vitamin D-dependent rickets, type I (264700)
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
Vitamin D-dependent rickets, type I 264700