Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Hearing loss

Gene: FGF3

Green List (high evidence)

FGF3 (fibroblast growth factor 3)
EnsemblGeneIds (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 OMIM
Created: 31 Jan 2016, 7:47 p.m.

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Good evidence for causing LAMM syndrome and the diagnosis could be missed so put on green list
Created: 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

17 Feb 2016, Gel status: 4

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

17 Feb 2016, Gel status: 4

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

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for FGF3 was changed to BIALLELIC, autosomal or pseudoautosomal

31 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 2

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

24 Jun 2015, Gel status: 2

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

24 Jun 2015, Gel status: 1

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