Fetal anomalies
Gene: FGFR2

FGFR2 (fibroblast growth factor receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 23 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous de novo variant in FGFR2 in a case where the main ultrasound finding was Fontal bossing, talipes, syndactyly, abducted thumbs (Table 1).
Created: 24 May 2019, 10:53 a.m.

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.

DDG2P rating in original PAGE list: Confirmed for CROUZON SYNDROME, Confirmed for APERT SYNDROME, Confirmed for LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, Confirmed for FAMILIAL SCAPHOCEPHALY SYNDROME, Confirmed for JACKSON-WEISS SYNDROME, Confirmmed for ANTLEY-BIXLER SYNDROME, Confirmed for BEARE-STEVENSON CUTIS GYRATA SYNDROME, and Confirmed for ACROCEPHALOSYNDACTYLY TYPE V.
Created: 11 Dec 2018, 9:04 a.m.

In the original PAGE file, MOP listed as Activating for CROUZON SYNDROME, APERT SYNDROME, JACKSON-WEISS SYNDROME and ACROCEPHALOSYNDACTYLY TYPE V. MOP listed as Uncertain for LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, FAMILIAL SCAPHOCEPHALY SYNDROME and ANTLEY-BIXLER SYNDROME.
Created: 8 Nov 2018, 4:45 p.m.

Phenotypes
Fontal bossing, talipes, syndactyly, abducted thumbs

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.318

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

PAGE DD-Gene2Phenotype
Expert Review Green

Phenotypes

BEARE-STEVENSON CUTIS GYRATA SYNDROME
LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME
JACKSON-WEISS SYNDROME
ACROCEPHALOSYNDACTYLY TYPE V
FAMILIAL SCAPHOCEPHALY SYNDROME
ANTLEY-BIXLER SYNDROME
CROUZON SYNDROME
APERT SYNDROME

OMIM

176943

Clinvar variants

Variants in FGFR2

Penetrance

None

Publications

28425981

Panels with this gene