Craniosynostosis

Gene: FGF3

Red List (low evidence)

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

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.

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