Deafness and congenital structural abnormalities

Gene: FGF10

Green List (high evidence)

FGF10 (fibroblast growth factor 10)
EnsemblGeneIds (GRCh38): ENSG00000070193
EnsemblGeneIds (GRCh37): ENSG00000070193
OMIM: 602115, Gene2Phenotype
FGF10 is in 8 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 three monoallelic variants reported, together with supportive animal model (PMID 15654336).
Created: 8 Sep 2016, 9:14 a.m.
Comment on phenotypes: Variants also reported in Aplasia of lacrimal and salivary glands 180920
Created: 8 Sep 2016, 8:59 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
LADD syndrome

Publications

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#149730:LADD syndrome [Broad forehead; Simple, cup-shaped ears; Hearing loss, mixed conductive-sensorineural; Alacrima (dry eye syndrome); Nasolacrimal duct obstruction; Aplastic/hypoplastic lacrimal puncta; Aplastic/hypoplastic lacrimal glands; Hypertelorism; Telecanthus; Downslanting palpebral fissures; Dacryocystitis; Partially reduced visually acuity; Recurrent corneal ulcerations; Corneal perforation; Limbal stem cell deficiency; Corneal sensitivity impairment (hypesthesia); Absent Stensen duct; Absent parotid gland; Dry mouth; Oral candidiasis; Hypodontia; Peg-shaped incisors; Enamel hypoplasia; Delayed eruption of primary teeth; Dental caries, severe; Coronal hypospadias; Renal agenesis; Nephrosclerosis; Short radius; Short ulna; Preaxial polydactyly; Digitalized thumb; Triphalangeal thumb; Thenar muscle hypoplasia; Syndactyly, 2-3 finger; Clinodactyly, 3,5 finger; Bifid thumb; Broad halluces; Syndactyly, 2-3, 3-4 toe]; #180920:Aplasia of lacrimal and salivary glands [Dry conjunctival mucosae; Lacrimal gland aplasia/hypoplasia; Absent lacrimal gland puncta; Xerostomia; Salivary gland aplasia/hypoplasia; Absent parotid papillae; Dental caries; Nonreversible airway obstruction; Reduced forced expiratory volume in 1 second (FEV1); Reduced FEV1/inspiratory vital capacity (IVC) ratio]

Publications

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

MIM 602115
Created: 3 Feb 2016, 4:53 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Causes LADD syndrome (lacrimo auriculo dento digital); syndromic features

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 149730
  • LADD syndrome, 149730
  • lacrimo auriculo dento digital syndrome
  • syndromic features
OMIM
602115
Clinvar variants
Variants in FGF10
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 4

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.

14 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

14 Oct 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for FGF10 were set to Bilateral Microtia; 149730; LADD syndrome, 149730;lacrimo auriculo dento digital syndrome; syndromic features

14 Oct 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for FGF10 were set to 16630169;10984614; 11702954; 11923311; 11959839; 15199404; 15260994; 15654336; 16501574; 17213838; 17259985; 18583612; 20035084; 21108385; 21742743; 24626928; 9287324; 9784490; 9916808; 9988217

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

FGF10 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen FGF10 was added to Deafness and congenital structural abnormalitiespanel. Source: Illumina TruGenome Clinical Sequencing Services FGF10 was added to Deafness and congenital structural abnormalitiespanel. Source: Emory Genetics Laboratory

5 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

FGF10 was created by sleigh

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

FGF10 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green