Deafness and congenital structural abnormalitiesGene: FGF10
Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.
Created: 12 Sep 2016, 2:18 p.m.
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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
#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]
Created: 3 Feb 2016, 4:53 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Causes LADD syndrome (lacrimo auriculo dento digital); syndromic features
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for FGF10 were set to Bilateral Microtia; 149730; LADD syndrome, 149730;lacrimo auriculo dento digital syndrome; syndromic features
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
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
FGF10 was created by sleigh
FGF10 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green