Genomics England
GMS Panels
Panels
Genes and Entities

PHEX

phosphate regulating endopeptidase homolog X-linked
OMIM: 300550
PanelMode of inheritanceDetails
5 panels
Green
in Hypophosphataemia or rickets
R-numbers: R154
Signed-off version 3.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Hypophosphatemic rickets, X-linked dominant (307800)
Green
in Nephrocalcinosis or nephrolithiasis
R-numbers: R256
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Hypophosphatemic rickets, X-linked dominant 307800
Green
in Rare syndromic craniosynostosis or isolated multisuture synostosis
R-numbers: R100
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
X-linked hypophosphataemic rickets
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Hypophosphatemic rickets, X-linked dominant 307800
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Hypophosphatemic rickets, X-linked dominant 307800