1. Panels
  2. Mosaic skin disorders
  3. FGFR3
STRs in panel
Prev Next
Regions in panel
Prev Next

Mosaic skin disorders

Gene: FGFR3

Green List (high evidence)
FGFR3 (fibroblast growth factor receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000068078
EnsemblGeneIds (GRCh37): ENSG00000068078
OMIM: 134934, Gene2Phenotype
FGFR3 is in 21 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epidermal naevi; Syringocystadenoma papilliferum

Created: 18 Feb 2021, 7:31 a.m.
Last Modified: 18 Feb 2021, 7:31 a.m.
Panel version: 0.3

Mathew Wallis (Tasmanian Clinical Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 18 Feb 2021, 6:13 a.m.
Last Modified: 18 Feb 2021, 6:13 a.m.
Panel version: 0.1

History Filter Activity

18 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fgfr3 has been classified as Green List (High Evidence).

18 Feb 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag somatic tag was added to gene: FGFR3.

18 Feb 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FGFR3 was added gene: FGFR3 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGFR3 were set to 22499344; 16841094 Phenotypes for gene: FGFR3 were set to Epidermal naevi; Syringocystadenoma papilliferum