Monogenic hearing loss
Gene: FGF3
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)]
Comment on list classification: Good evidence from expert reviewer and OMIMCreated: 31 Jan 2016, 7:47 p.m.
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
Phenotypes for FGF3 were set to hearing loss; #610706: Deafness, congenital with inner ear agenesis, microtia, and microdontia
Publications for FGF3 were set to PMID:15809038; 16329133; 17236138; 17656375; 17906623; 18435799; 1846319; 18583612; 18701883; 1922362; 21108385; 21480479; 2470007; 3023852; 3574458
Mode of inheritance for FGF3 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
FGF3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
FGF3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
FGF3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert