Limb disorders
Gene: FGF10Comment when marking as ready: Radial aplasia is reported in addition to variable radial ray features. Sufficient evidence from reviewsCreated: 11 May 2017, 12:02 p.m.
Comment when marking as ready: Associated with phenotype in G2P. At least three variants reported in this phenotype.Created: 12 Jul 2016, 6:57 a.m.
Comment on phenotypes: Variants also reported in Aplasia of lacrimal and salivary glands 180920Created: 12 Jul 2016, 6:56 a.m.
Tier 3Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aplasia of lacrimal and salivary glands 180920; LADD syndrome 149730
Variants in this GENE are reported as part of current diagnostic practice
Ana Beleza: Tier 3
Mode of inheritance for gene FGF10 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes short radius; LADD syndrome, 149730; Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs for gene: FGF10
Victorian Clinical Genetics Services was added to FGF10. Panel: Limb disorders Phenotypes for gene FGF10 were set to LADD syndrome 149730, Polydactyly
Expert Review Green was added to FGF10. Panel: Limb disorders UKGTN was added to FGF10. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to FGF10. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to FGF10. Panel: Limb disorders Expert list was added to FGF10. Panel: Limb disorders Emory Genetics Laboratory was added to FGF10. Panel: Limb disorders Model of inheritance for gene FGF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
London South East RGC GSTT was added to FGF10. Panel: Limb disorders
FGF10 was added to Limb disorders panel. Sources: Viapath
FGF10 was created by Ellen McDonagh