Bilateral microtia
Gene: FGF3

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

2 reviews

Jun Shen (Harvard Medical School)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#610706:Deafness, congenital with inner ear agenesis, microtia, and microdontia [Long face; Micrognathia; Microtia, type I; Deafness, profound congenital sensorineural; Michel aplasia (complete absence of inner ear structures); Labyrinthine aplasia; Anteverted ears; Microdontia; Widely spaced teeth; Conical teeth; Skin tags on the upper part of the auricle; Gross motor skill delay (infancy); Stenosis of the jugular foramen; Pontocerebellar arachnoid cyst (reported in 2 patients)]

Publications

Created: 9 Feb 2016, 5:15 p.m.

Panel version: 1.0

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
labyrinthine aplasia, microdontia, microtia

Publications

17236138

Variants in this GENE are reported as part of current diagnostic practice

Created: 3 Feb 2016, 3:10 p.m.

Panel version: 0.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list
Radboud University Medical Center, Nijmegen

Phenotypes

610706

OMIM

164950

Clinvar variants

Variants in FGF3

Penetrance

Complete

Publications

17236138

Panels with this gene