Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: FGF3

FGF3 (fibroblast growth factor 3)
EnsemblGeneIds (GRCh38): ENSG00000186895
EnsemblGeneIds (GRCh37): ENSG00000186895
OMIM: 164950, Gene2Phenotype
FGF3 is in 6 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

No mention of CSS in OMIM. On Fulgent CSS panel. Phenotypic overlap with LADD syndrome ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Phenotypes
congenital deafness with inner ear agenesis, microtia and microdontia

Created: 5 Mar 2019, 11:33 a.m.

Panel version: 1.47

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: FGF3; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.

Created: 5 Mar 2019, 11:21 a.m.

Panel version: 1.46

Details

Sources

NHS GMS

Phenotypes

congenital deafness with inner ear agenesis, microtia and microdontia

OMIM

164950

Clinvar variants

Variants in FGF3

Penetrance

None

Panels with this gene

History Filter Activity

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes congenital deafness with inner ear agenesis, microtia and microdontia for gene: FGF3

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: FGF3 was added gene: FGF3 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: FGF3 was set to

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: FGF3