Radial dysplasia

Gene: FGF10

Green List (high evidence)

FGF10 (fibroblast growth factor 10)
EnsemblGeneIds (GRCh38): ENSG00000070193
EnsemblGeneIds (GRCh37): ENSG00000070193
OMIM: 602115, Gene2Phenotype
FGF10 is in 8 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.

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.

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • LADD syndrome, 149730
  • Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs
  • short radius
OMIM
602115
Clinvar variants
Variants in FGF10
Penetrance
Complete
Panels with this gene

History Filter Activity

23 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

5 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

FGF10 was added to Radial dysplasiapanel. Source: Expert list

5 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

FGF10 was added to Radial dysplasiapanel. Sources: Other

5 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

FGF10 was created by rfoulger