Hypophosphataemia or rickets
Gene: FGFR1
Hypophosphatemia ususally presents as part of Osteoglophonic Dysplasia, a disorder that shares skeletal characteristics with both the craniosynostoses and the dwarfing syndromes. OD has distinctive dysmorphology and no reports of isolated hypophosphatemia in patients with activating FGFR1 variants, therefore likely that these patients will be picked up through the skeletal panel. White et al 2005 (PMID: 15625620) - 4 cases from 3 unrelated kindredsCreated: 16 Jan 2019, 1:17 p.m.
Publications
Comment on list classification: Demoted from green to red as recommended by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust).Created: 17 Jan 2019, 2:58 p.m.
Comment on list classification: Promoted from red to green based on the previous comment.Created: 4 Dec 2018, 10:52 a.m.
FGFR1 has been confirmed to cause Osteoglophonic dysplasia by OMIM and Gene2Phenotype. FGFR1 is also a green gene on the Skeletal dysplasia panel (Version 1.129). There are >3 unrelated cases of patients with Osteoglophonic dysplasia with variants in FGFR1.Created: 30 Nov 2018, 4:18 p.m.
Publications
Ivone Leong: FGFR1 has been confirmed to ca
Gene: fgfr1 has been classified as Red List (Low Evidence).
Gene: fgfr1 has been classified as Green List (High Evidence).
Publications for gene: FGFR1 were set to
Mode of inheritance for gene: FGFR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
gene: FGFR1 was added gene: FGFR1 was added to Hypophosphataemia or rickets. Sources: Literature,Emory Genetics Laboratory Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGFR1 were set to Osteoglophonic dysplasia (166250); Hypophosphatemia