Skeletal Dysplasia_Fetal
Gene: FGFR2

FGFR2 (fibroblast growth factor receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 20 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association with multiple craniosynostosis syndromes. Radial ray abnormalities are a feature of LADD syndrome.
Sources: Expert list
Created: 23 Jul 2020, 11:39 p.m. | Last Modified: 21 Dec 2021, 7:06 a.m.

Panel Version: 0.1592

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
LADD syndrome, MIM#149730; Apert syndrome, MIM# 101200; Crouzon syndrome, MIM# 123500; Jackson-Weiss syndrome, MIM# 123150; Pfeiffer syndrome, MIM# 101600; Saethre-Chotzen syndrome, MIM# 101400

Created: 23 Jul 2020, 11:39 p.m.
Last Modified: 21 Dec 2021, 7:06 a.m.
Panel version: Imported from Fetal anomalies panel version 0.1592

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

176943

Clinvar variants

Variants in FGFR2

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: FGFR2 was added gene: FGFR2 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: FGFR2 was set to Unknown

Skeletal Dysplasia_Fetal Gene: FGFR2