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  3. FGF9
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Craniosynostosis

Gene: FGF9

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

2 reviews

Chris Richmond (Genetic Health Queensland)

Green List (high evidence)

In addition to previous review of single family + mouse model, PMID 19589401 reports 12 individuals with multiple craniosynostosis. Propose upgrade to green.
Created: 31 Mar 2021, 11:44 p.m. | Last Modified: 31 Mar 2021, 11:44 p.m.
Panel Version: 1.15

Phenotypes
Multiple synostoses syndrome 3 (612961)

Publications

Created: 31 Mar 2021, 11:44 p.m.
Last Modified: 31 Mar 2021, 11:44 p.m.
Panel version: 1.15

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A single family reported with craniosynostosis and a mouse model that recapitulates this phenotype.
Created: 3 Jun 2020, 6:19 a.m. | Last Modified: 3 Jun 2020, 6:19 a.m.
Panel Version: 0.9

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Multiple synostoses syndrome 3 MIM#612961

Publications

Created: 3 Jun 2020, 6:19 a.m.
Last Modified: 3 Jun 2020, 6:19 a.m.
Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple synostoses syndrome 3 MIM#612961
OMIM
600921
Clinvar variants
Variants in FGF9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FGF9 were set to

1 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fgf9 has been classified as Green List (High Evidence).

3 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

3 Jun 2020, Gel status: 2

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: FGF9 were changed from to Multiple synostoses syndrome 3 MIM#612961

3 Jun 2020, Gel status: 2

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: FGF9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

3 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FGF9 was added gene: FGF9 was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FGF9 was set to Unknown