Skeletal dysplasia

Gene: FGF23

Green List (high evidence)

Abnormal mineralization gp of SD - at least 3 cases reported. Variants also associated with ;Osteomalacia, tumor-induced and tumoral calcinosis, hyperphosphatemic, familial, 2 - 617993.; Review on behalf of Tracy Lester

Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypophosphatemic rickets, autosomal dominant 193100

I don't know

Comment on mode of inheritance: Updated mode of inheritance so in agreement with Tracy Lester's recommendation and OMIM

Created: 8 May 2019, 2:07 p.m.

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: FGF23; Initial rating suggestion: green

Created: 6 Mar 2019, 11:36 a.m.

Green List (high evidence)

Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs

Created: 27 Jul 2016, 9:35 a.m.

Comment when marking as ready: At least two variants reported in Hypophosphatemic rickets, autosomal dominant 193100 and at least three in Osteomalacia, tumor-induced.

Created: 12 Jul 2016, 7:03 a.m.

Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)

Created: 21 Jun 2016, 1:20 p.m.

Green List (high evidence)

Tier 1

Created: 17 Jun 2016, 8:04 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Tumoral calcinosis, hyperphosphatemic, familial 211900; Hypophosphatemic rickets, autosomal dominant 193100; Osteomalacia, tumor-induced

Variants in this GENE are reported as part of current diagnostic practice