Radial Ray Abnormalities
Gene: FGF10EnsemblGeneIds (GRCh38): ENSG00000070193
EnsemblGeneIds (GRCh37): ENSG00000070193
OMIM: 602115, Gene2Phenotype
FGF10 is in 8 panels
1 review
Natalie Tan (Victorian Clinical Genetics Services)
Multiple unrelated individuals with heterozygous variants reported in association with LADD syndrome, which manifests variable radial ray features. Allelic condition: aplasia of lacrimal and salivary glands.
Sources: NHS GMSCreated: 22 Jul 2020, 7:15 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lacrimoauriculodentodigital syndrome (149730); Aplasia of lacrimal and salivary glands (180920)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Lacrimoauriculodentodigital syndrome (149730)
- Aplasia of lacrimal and salivary glands (180920)
- OMIM
- 602115
- Clinvar variants
- Variants in FGF10
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fgf10 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fgf10 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Natalie Tan (Victorian Clinical Genetics Services)gene: FGF10 was added gene: FGF10 was added to Radial Ray Abnormalities. Sources: NHS GMS Mode of inheritance for gene: FGF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGF10 were set to PMID: 15654336; 16501574; 16630169; 17682060 Phenotypes for gene: FGF10 were set to Lacrimoauriculodentodigital syndrome (149730); Aplasia of lacrimal and salivary glands (180920) Review for gene: FGF10 was set to GREEN