Mosaic skin disorders - deep sequencing

Gene: FGFR2

Amber List (moderate evidence)

FGFR2 (fibroblast growth factor receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 25 panels

2 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple reports of somatic variants causing skin manifestations.
Created: 18 Feb 2021, 8:07 a.m. | Last Modified: 18 Feb 2021, 8:07 a.m.
Panel Version: 1.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Keratinocytic epidermal naevi

Publications

Tom Cullup (Great Ormond Street Hospital)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epdermal naevi

Publications

History Filter Activity

5 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: fgfr2 has been classified as Amber List (Moderate Evidence).

5 Dec 2019, Gel status: 1

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

Catherine Snow (Genomics England)

gene: FGFR2 was added gene: FGFR2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Red Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGFR2 were set to 9728990 Phenotypes for gene: FGFR2 were set to Epdermal naevi