1. Panels
  2. Intellectual_disability
  3. FGFR3
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual_disability

Gene: FGFR3

Red List (low evidence)
FGFR3 (fibroblast growth factor receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000068078
EnsemblGeneIds (GRCh37): ENSG00000068078
OMIM: 134934, Gene2Phenotype
FGFR3 is in 24 panels

0 reviews

Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Achondroplasia, 100800Hypochondroplasia, 146000Thanatophoric dysplasia, type I, 187600Crouzon syndrome with acanthosis nigricans, 612247Muenke syndrome, 602849Bladder cancer, somatic, 109800Colorectal cancer, somatic, 114500Cervical cancer, somatic, 603956LADD syndrome, 149730CATSHL syndrome, 610474Nevus, epidermal, somatic, 162900Thanatophoric dysplasia, type II, 187601Spermatocytic seminoma, somatic, 273300
OMIM
134934
Clinvar variants
Variants in FGFR3
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FGFR3 was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen