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Limb disorders

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
  • 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

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to FGF10. Panel: Limb disorders Phenotypes for gene FGF10 were set to LADD syndrome 149730, Polydactyly

5 Apr 2018, Gel status: 4

Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to FGF10. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FGF10 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

FGF10 was created by Ellen McDonagh