Skeletal Dysplasia_Fetal
Gene: FGFR3

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association with skeletal dysplasias of variable severity, including perinatal lethal. Variable radial ray defects (at the most severe, bilateral radial aplasia) are a feature of LADD syndrome.
Sources: Expert list
Created: 23 Jul 2020, 11:35 p.m. | Last Modified: 21 Dec 2021, 7:12 a.m.

Panel Version: 0.1594

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
LADD syndrome, MIM#149730; Achondroplasia, MIM# 100800; Thanatophoric dysplasia, type I, MIM# 187600; Thanatophoric dysplasia, type II, MIM# 187601

Created: 23 Jul 2020, 11:35 p.m.
Last Modified: 21 Dec 2021, 7:12 a.m.
Panel version: Imported from Fetal anomalies panel version 0.1594

Details

Mode of Inheritance

Unknown

Sources

Expert Review Green
Genomics England PanelApp
Expert list
Victorian Clinical Genetics Services
Expert Review Green
Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

OMIM

134934

Clinvar variants

Variants in FGFR3

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FGFR3 was added gene: FGFR3 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FGFR3 was set to Unknown

Skeletal Dysplasia_Fetal Gene: FGFR3