Bilateral microtia

Gene: FGF10

Green List (high evidence)

FGF10 (fibroblast growth factor 10)
EnsemblGeneIds (GRCh38): ENSG00000070193
EnsemblGeneIds (GRCh37): ENSG00000070193
OMIM: 602115, Gene2Phenotype
FGF10 is in 10 panels

2 reviews

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
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 149730
OMIM
602115
Clinvar variants
Variants in FGF10
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

4 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for FGF10 were set to 16630169

4 Feb 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

Mode of inheritance for FGF10 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

4 Feb 2016, Gel status: 0

Set Phenotypes

Richard Scott (Genomics England Curator)

Phenotypes for FGF10 were set to Bilateral Microtia;149730

28 Apr 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FGF10 was added to Bilateral Microtiapanel. Sources: Expert list