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  2. GMS Musculoskeletal specialist test group Skeletal dysplasia
  3. FGF9
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GMS Musculoskeletal specialist test group Skeletal dysplasia

Gene: FGF9

Amber List (moderate evidence)
FGF9 (fibroblast growth factor 9)
EnsemblGeneIds (GRCh38): ENSG00000102678
EnsemblGeneIds (GRCh37): ENSG00000102678
OMIM: 600921, Gene2Phenotype
FGF9 is in 5 panels

2 reviews

Eleanor Williams (Genomics England Curator)

updated. Reviews are correct. Affects only internal panel
Created: 3 May 2019, 9:41 a.m.
Created: 3 May 2019, 9:41 a.m.

Panel version: 0.27

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

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 Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Multiple synostoses syndrome type 3 612961

Publications

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Multiple synostoses syndrome type 3 612961
OMIM
600921
Clinvar variants
Variants in FGF9
Penetrance
None
Panels with this gene

History Filter Activity

3 May 2019, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: FGF9 were changed from Hypophosphatemic rickets, autosomal dominant 193100 to ?Multiple synostoses syndrome type 3 612961

3 May 2019, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: fgf9 has been classified as Amber List (Moderate Evidence).

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

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