Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Limb disorders

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

4 reviews

Eleanor Williams (Genomics England Curator)

I don't know

No new evidence so keep as Amber
Created: 7 Nov 2018, 1:26 p.m.
Comment on mode of inheritance: Both cases to date report monoallelic inheritance
Created: 9 Sep 2018, 10:01 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Multiple synostoses syndrome 3 612961

Publications

Olivia Niblock (Genomics England Curator)

I don't know

Variants in this gene appear to impact joint development, which impacts limb development. There is some evidence in the literature, including the previously mentioned paper (PMID: 19589401) with a single variant in a 5-generation Chinese family. Case study describing an affected proband, his unaffected mother and father with suggestive features has also been noted (PMID: 28730625), with phenotypes including syndactyly, dolichocephaly and sagittal suture synostosis. Animal models are available for this knockout (PMID: 28169396)
Created: 5 Apr 2018, 1:43 p.m.

Publications

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, imprinted status unknown
Sources
  • Expert Review Amber
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Multiple synostoses syndrome 3 612961
OMIM
600921
Clinvar variants
Variants in FGF9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 2

7 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

7 Nov 2018, Gel status: 2

Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

Added phenotypes Multiple synostoses syndrome 3 612961 for gene: FGF9 Publications for gene FGF9 were changed from 19460469; 28169396; 19589401 to 19460469; 28730625; 28169396; 19589401

9 Sep 2018, Gel status: 2

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: FGF9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

6 Apr 2018, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for FGF9 were set to 19460469; 28169396; 19589401

6 Apr 2018, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to FGF9. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FGF9 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

FGF9 was created by Ellen McDonagh