Genomics England
GMS Panels
Panels
Genes and Entities

SFRP4

secreted frizzled related protein 4
OMIM: 606570
PanelMode of inheritanceDetails
2 panels
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyle disease, 265900, PYL, Metaphyseal dysplasia
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
PYL, Metaphyseal dysplasia, Pyle disease 265900