FGF23

fibroblast growth factor 23
OMIM: 605380, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green FGF23 in Familial tumoral calcinosis Level 2: Endocrinology Version 1.11 Latest signed off version: v1.2 (19 Feb 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 2, OMIM:617993
Green FGF23 in Hypophosphataemia or rickets Level 2: Endocrinology Version 4.2 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Expert list Phenotypes Hypophosphatemic rickets, autosomal dominant (193100)
Red FGF23 in Nephrocalcinosis or nephrolithiasis Level 2: Renal Version 5.5 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Tags watchlist
Green FGF23 in Pigmentary skin disorders Level 2: Dermatology Version 4.13 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Familial tumoural calcinosis ADHR, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2 HFTC2 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT
Amber FGF23 in Rare genetic inflammatory skin disorders Level 2: Dermatology Version 4.16 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber
No list FGF23 in Multiple monogenic benign skin tumours Level 2: Dermatology Version 2.5 Latest signed off version: v2.0 (30 Nov 2022)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Removed London North GLH NHS GMS Phenotypes Familial tumoural calcinosis Tags curated_removed
Green FGF23 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Expert list Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Phenotypes Hypophosphatemic rickets, autosomal dominant 193100 Osteomalacia, tumor-induced Tumoral calcinosis, hyperphosphatemic, familial 211900
Red FGF23 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Phenotypes Tumoral calcinosis, hyperphosphatemic, familial, OMIM:6211900 Hypophosphatemic rickets, autosomal dominant, OMIM:6193100
Red FGF23 in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Osteogenesis Imperfecta and Decreased Bone Density skeletal dysplasias