PHEX:Ensemblv90

phosphate regulating endopeptidase homolog X-linked
OMIM: 300550, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green PHEX in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.73	1 review	Other	Sources Expert Review Green Expert list Phenotypes Hypophosphatemic rickets, X-linked dominant, MIM# 307800
Green PHEX in Mendeliome Version 1.3802	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypophosphatemic rickets, MIM#307800
Green PHEX in Calcium and Phosphate disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 1.29	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Phenotypes Hypophosphatemic rickets, MIM#307800
Green PHEX in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.365	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Expert UKGTN Radboud University Medical Center, Nijmegen Expert Review Green NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Hypophosphatemic rickets, X-linked dominant 307800
Green PHEX in Fetal anomalies Version 1.482	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Hypophosphatemic rickets, X-linked dominant - MIM#307800
Green PHEX in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green BeginNGS Phenotypes Hypophosphatemic rickets, X-linked dominant, MIM# 307800 Tags treatable skeletal
Green PHEX in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.22 Component of the following Super Panels: Kidneyome_SuperPanel	3 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Expert Review Green Literature KidGen_CalcPhos v38.1.0 Phenotypes Hypophosphatemic rickets, X-linked dominant OMIM #307800
Green PHEX in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	Other	Sources Expert list Expert Review Green Phenotypes Hypophosphatemic rickets, X-linked dominant, MIM# 307800
Green PHEX in Calcium and Phosphate disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 2.0	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources KidGen_CalcPhos v38.1.0 Expert Review Green Phenotypes Hypophosphatemic rickets, MIM#307800
Green PHEX in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Emory Genetics Laboratory Expert list NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Expert Illumina TruGenome Clinical Sequencing Services Expert Review Green Phenotypes Hypophosphatemic rickets, X-linked dominant 307800
Green PHEX in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BeginNGS Expert Review Green Phenotypes Hypophosphatemic rickets, X-linked dominant, MIM# 307800 Tags treatable skeletal
Green PHEX in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 2.0	3 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources KidGen_CalcPhos v38.1.0 Literature Expert Review Green Literature Expert Review Green Phenotypes Hypophosphatemic rickets, X-linked dominant OMIM #307800