Monogenic hearing loss
Gene: FGF3EnsemblGeneIds (GRCh38): ENSG00000186895
EnsemblGeneIds (GRCh37): ENSG00000186895
OMIM: 164950, Gene2Phenotype
FGF3 is in 6 panels
3 reviews
Jun Shen (Harvard Medical School)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#610706:Deafness, congenital with inner ear agenesis, microtia, and microdontia[Long faceMicrognathia; Microtia, type IDeafness, profound congenital sensorineuralMichel aplasia (complete absence of inner ear structures)Labyrinthine aplasiaAnteverted ears; MicrodontiaWidely spaced teethConical teeth; Skin tags on the upper part of the auricle; Gross motor skill delay (infancy)Stenosis of the jugular foramenPontocerebellar arachnoid cyst (reported in 2 patients)]
Damian Smedley (Genomics England Curator)
Comment on list classification: Good evidence from expert reviewer and OMIMCreated: 31 Jan 2016, 7:47 p.m.
Maria Bitner-Glindzicz (UCL)
Good evidence for causing LAMM syndrome and the diagnosis could be missed so put on green listCreated: 19 Oct 2015, 5:53 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- hearing loss
- #610706: Deafness, congenital with inner ear agenesis, microtia, and microdontia
- OMIM
- 164950
- Clinvar variants
- Variants in FGF3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for FGF3 were set to hearing loss; #610706: Deafness, congenital with inner ear agenesis, microtia, and microdontia
Set publications
Ellen McDonagh (Genomics England Curator)Publications for FGF3 were set to PMID:15809038; 16329133; 17236138; 17656375; 17906623; 18435799; 1846319; 18583612; 18701883; 1922362; 21108385; 21480479; 2470007; 3023852; 3574458
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for FGF3 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)FGF3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)FGF3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)FGF3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert