Pigmentary skin disordersGene: FGF23
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: FGF23; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.
Added phenotypes ADHR, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; HFTC2 for gene: FGF23 Publications for gene FGF23 were changed from to 11062477; 15590700
Source London North GLH was added to FGF23.
gene: FGF23 was added gene: FGF23 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FGF23 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FGF23 were set to Familial tumoural calcinosis