ClinGen Gene Validity Curations

Gene: FGFR3

Green List (high evidence)

FGFR3 (fibroblast growth factor receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000068078
EnsemblGeneIds (GRCh37): ENSG00000068078
OMIM: 134934, Gene2Phenotype
FGFR3 is in 23 panels

1 review

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 23 Jun 2017, 11:51 a.m.
Source: ClinGen Gene Validity Classification Summary. Determined as DEFINITIVE by calculated classification (dated: 04/05/2016) and DEFINITIVE by Expert curation (dated 12/01/2016). Available here: https://search.clinicalgenome.org/kb/gene-validity/3221.
Created: 20 Apr 2017, 12:21 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

History Filter Activity

20 Jun 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

FGFR3 was added to ClinGen Gene Validity Curationspanel. Source: ClinGen

20 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

20 Apr 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FGFR3 was added to ClinGen Gene Validity Curationspanel. Sources: Other

20 Apr 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FGFR3 was created by ellenmcdonagh