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Kidneyome_SuperPanel_VCGS

Gene: PHEX

Green List (high evidence)
PHEX (phosphate regulating endopeptidase homolog X-linked)
EnsemblGeneIds (GRCh38): ENSG00000102174
EnsemblGeneIds (GRCh37): ENSG00000102174
OMIM: 300550, Gene2Phenotype
PHEX is in 8 panels

0 reviews

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • OMIM #307800
  • Hypophosphatemic rickets, X-linked dominant
OMIM
300550
Clinvar variants
Variants in PHEX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: PHEX was added gene: PHEX was added to Kidneyome_SuperPanel_VCGS. Sources: Expert Review Green,Literature Mode of inheritance for gene: PHEX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PHEX were set to PMID: 31065622 Phenotypes for gene: PHEX were set to OMIM #307800; Hypophosphatemic rickets, X-linked dominant