Disorders of sex development

Gene: FGFR2

Amber List (moderate evidence)

FGFR2 (fibroblast growth factor receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 25 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype.

After consulting with the Genomics England Clinical Team, it was decided that this gene should be rated Amber. Helen Brittain (Genomics England):
"In the fetal cases the potential DSD phentoype is very mild and eclipsed by the skeletal / craniosynostosis presentation."
Created: 19 Mar 2021, 12:51 p.m. | Last Modified: 19 Mar 2021, 12:51 p.m.
Panel Version: 2.45

Zornitza Stark (Australian Genomics)

Green List (high evidence)

PMID: 26362256 - 1 individual with craniosynostosis and XY sex reversal and a missense variant. Phenotype recapitulated using mouse model, concludes a LOF mechanism.

PMID: 18155190 - partial null mutant mouse model shows XY sex reversal

PMID: 2238701 - 4 fetuses with de novo mutations and a skeletal disorder 3/4 had clitoromegaly, last fetus only had radiograph available. p.(Met391Arg) is recurring, variants are supported by functional studies showing protein mislocalization

Mutations reported for all other FGFR2-related conditions have a GOF mechanism
Sources: Expert list
Created: 15 Jul 2020, 7:58 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
LADD syndrome 149730; Bent bone dysplasia syndrome 614592

Publications

History Filter Activity

19 Mar 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_expert_review tag was added to gene: FGFR2.

19 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: fgfr2 has been classified as Amber List (Moderate Evidence).

1 Mar 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: FGFR2 were set to 26362256; 18155190

1 Mar 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: FGFR2 were set to 26362256; 18155190; 2238701

1 Mar 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: FGFR2 were set to 26362256; 18155190

1 Mar 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: FGFR2 were changed from LADD syndrome 149730; Bent bone dysplasia syndrome 614592 to LADD syndrome, OMIM:149730; Bent bone dysplasia syndrome, OMIM:614592

15 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: FGFR2 was added gene: FGFR2 was added to Disorders of sex development. Sources: Expert list Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGFR2 were set to 26362256; 18155190 Phenotypes for gene: FGFR2 were set to LADD syndrome 149730; Bent bone dysplasia syndrome 614592 Review for gene: FGFR2 was set to GREEN