Deafness_IsolatedAndComplex
Gene: FGF3

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 50 affected individuals reported, functional data including animal models, expression studies and in vitro functional assays. Rated as DEFINITIVE by ClinGen.
Created: 29 Sep 2020, 10:30 a.m. | Last Modified: 29 Sep 2020, 10:30 a.m.

Panel Version: 0.464

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM# 610706

Publications

Created: 29 Sep 2020, 10:30 a.m.
Last Modified: 29 Sep 2020, 10:30 a.m.
Panel version: 0.464

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM# 610706

OMIM

164950

Clinvar variants

Variants in FGF3

Penetrance

None

Publications

Panels with this gene