Limb disorders
Gene: FGF10

FGF10 (fibroblast growth factor 10)
EnsemblGeneIds (GRCh38): ENSG00000070193
EnsemblGeneIds (GRCh37): ENSG00000070193
OMIM: 602115, Gene2Phenotype
FGF10 is in 9 panels

3 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Radial aplasia is reported in addition to variable radial ray features. Sufficient evidence from reviews
Created: 11 May 2017, 12:02 p.m.

Created: 11 May 2017, 12:02 p.m.

Panel version: Imported from Radial dysplasia panel version 0.96

Sarah Leigh (Genomics England Curator)

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 180920
Created: 12 Jul 2016, 6:56 a.m.

Created: 12 Jul 2016, 6:56 a.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.464

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 3
Created: 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

Created: 17 Jun 2016, 8:03 a.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Victorian Clinical Genetics Services
Emory Genetics Laboratory
Expert list
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
UKGTN
Expert Review Green
London South East RGC GSTT
Viapath

Phenotypes

Polydactyly
Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs
LADD syndrome 149730
LADD syndrome, 149730
short radius

OMIM

602115

Clinvar variants

Variants in FGF10

Penetrance

None

Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 3

16 Oct 2018, Gel status: 4

Set mode of inheritance, Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

13 Aug 2018, Gel status: 4