GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: FGF10

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

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: This gene should have been uploaded as green on the internal panels
Created: 6 May 2019, 4:07 p.m.

Created: 6 May 2019, 4:07 p.m.

Panel version: 0.31

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

polydactyly-syndactyly-triphalangism SD gp. Several cases reported. ALSG is amilder allelic form - 180920. Do you report variants in this gene as part of your current diagnostic practice? YES - for LADD &ALSG; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
LADD syndrome 149730

Variants in this GENE are reported as part of current diagnostic practice

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

?Multiple synostoses syndrome type 3 612961

OMIM

602115

Clinvar variants

Variants in FGF10

Penetrance

None

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: fgf10 has been classified as Green List (High Evidence).

6 Mar 2019, Gel status: 2

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

Eleanor Williams (Genomics England Curator)

gene: FGF10 was added gene: FGF10 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: FGF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGF10 were set to ?Multiple synostoses syndrome type 3 612961

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: FGF10