GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: FGF9updated. Reviews are correct. Affects only internal panelCreated: 3 May 2019, 9:41 a.m.
Defects in joint formation and synostoses gp of SD. Two cases reported, one with multiple synostoses syndrome and one with sagittal suture synostosis. Missense variants with no functional studies. (Wu et al 2009, Rodriguez-Zabala et al 2017). Dominant mouse mutant has elbow knee synostosis - ? Amber; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
?Multiple synostoses syndrome type 3 612961
Publications
Phenotypes for gene: FGF9 were changed from Hypophosphatemic rickets, autosomal dominant 193100 to ?Multiple synostoses syndrome type 3 612961
Gene: fgf9 has been classified as Amber List (Moderate Evidence).
gene: FGF9 was added gene: FGF9 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FGF9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGF9 were set to Hypophosphatemic rickets, autosomal dominant 193100