Deafness and congenital structural abnormalities
Gene: FGF3EnsemblGeneIds (GRCh38): ENSG00000186895
EnsemblGeneIds (GRCh37): ENSG00000186895
OMIM: 164950, Gene2Phenotype
FGF3 is in 6 panels
5 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.Created: 12 Sep 2016, 2:18 p.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. At least nine variants reported.Created: 8 Sep 2016, 9:18 a.m.
Comment on list classification: Expert reviewCreated: 8 Sep 2016, 9:18 a.m.
Jun Shen (Harvard Medical School)
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
Maria Bitner-Glindzicz (UCL)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
labyrinthine aplasia, microdontia, microtia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Eligibility statement prior genetic testing
- Expert list
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- 610706
- Hearing loss panel
- Deafness, congenital with inner ear agenesis, microtia and microdontia, 610706
- labyrinthine aplasia, microdontia, microtia
- OMIM
- 164950
- Clinvar variants
- Variants in FGF3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for FGF3 were set to 17236138;15809038; 16329133; 17236138; 17656375; 17906623; 18435799; 1846319; 18583612; 18701883; 1922362; 21108385; 21480479; 2470007; 3023852; 3574458;17656375; 18701883; 21480479
Added New Source
Sarah Leigh (Genomics England Curator)FGF3 was added to Deafness and congenital structural abnormalitiespanel. Source: Emory Genetics Laboratory FGF3 was added to Deafness and congenital structural abnormalitiespanel. Source: Eligibility statement prior genetic testing
Added New Source
Sarah Leigh (Genomics England Curator)FGF3 was added to Deafness and congenital structural abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Created
Sarah Leigh (Genomics England Curator)FGF3 was created by sleigh