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Skeletal dysplasia

Gene: FGF9

Red List (low evidence)

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

5 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Thuresson et al. (2021) identified a de novo heterozygous missense variant in FGF9 (Pro189Arg) in 16‐year old boy with multiple synostoses syndrome. Functional studies showed this variant impairs FGF9 homodimerization, but not FGFR3c binding.

Wu et al. (2009) identified a heterozygous missense variant in FGF9 (S99N) in 5-generation Chinese family with AD multiple synostoses syndrome. Variant segregated with disease and was not found in 250 unrelated ethnically matched controls. Biochemical analysis reveals that S99N mutation in FGF9 leads to significantly impaired FGF signaling, as evidenced by diminished activity of Erk1/2 pathway and decreased beta-catenin and c-Myc expression when compared with wild-type FGF9.

Rodriguez-Zabala et al. (2017) identified a heterozygous missense variant in FGF9 (R62G) in a Spanish father and son with multiple synostoses syndrome and craniosynostosis. Variant segregated with disease in the family and was not found in 150 Spanish controls or in the gnomAD database. The mutation appeared to have arisen de novo in the father, as it was not detected in the biologically confirmed unaffected paternal grandparents. Modeling based upon the crystal structure and functional studies confirmed its pathogenicity showing that it impaired homodimerization and FGFR3 binding.

Sentchordi-Montané et al. (2021) identified a heterozygous missense variant in FGF9 (Asn143Tyr) in a young girl with a multiple joint synostosis.
Created: 1 Feb 2021, 9:13 a.m. | Last Modified: 1 Feb 2021, 9:13 a.m.
Panel Version: 2.80

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Multiple synostoses syndrome 3, OMIM # 612961

Publications

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

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, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Multiple synostoses syndrome type 3 612961

Publications

Eleanor Williams (Genomics England Curator)

I don't know

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: FGF9; Initial rating suggestion: amber
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Comment on mode of inheritance: from publication PMID 19589401
Created: 10 Apr 2017, 12:56 p.m.
Single variant c.296G>A p.(Ser99 Asn) reported in 12 affected members of a 5-generation Chinese family with autosomal dominant multiple synostoses syndrome. Supporting functional data provided.
Probable G2P association
Created: 10 Apr 2017, 12:52 p.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 9:35 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)
Created: 21 Jun 2016, 12:48 p.m.

Publications

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:04 a.m.

Mode of inheritance
Unknown

Phenotypes
Multiple synostoses syndrome 3 612961

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • ?Multiple synostoses syndrome type 3 612961
Tags
watchlist
OMIM
600921
Clinvar variants
Variants in FGF9
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes ?Multiple synostoses syndrome type 3 612961 for gene: FGF9

6 Mar 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to FGF9.

10 Apr 2017, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for FGF9 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

10 Apr 2017, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for FGF9 were set to 19589401

10 Apr 2017, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

10 Apr 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for FGF9 were set to ?Multiple synostoses syndrome type 3 612961

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

7 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for FGF9 were set to Multiple synostoses syndrome type 3 612961

7 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for FGF9 was changed to Unknown

21 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

FGF9 was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

FGF9 was created by sleigh