Monogenic short stature
Gene: FGFR3

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that FGFR3 should be included on this panel based on the Hypochondroplasia phenotype. Therefore added FGFR3 to the panel as a new Green gene.
Created: 30 May 2019, 9:34 a.m.

Created: 30 May 2019, 9:34 a.m.

Copied from panel: Growth failure in early childhood v3.76

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green

Phenotypes

Hypochondroplasia, OMIM:146000
Crouzon syndrome with acanthosis nigricans, OMIM:612247
Thanatophoric dysplasia, type I, OMIM:187600
Thanatophoric dysplasia, type II, OMIM:187601

OMIM

134934

Clinvar variants

Variants in FGFR3

Penetrance

None

Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: FGFR3 was added gene: FGFR3 was added to Monogenic short stature. Sources: Expert Review Green Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGFR3 were set to Hypochondroplasia, OMIM:146000; Crouzon syndrome with acanthosis nigricans, OMIM:612247; Thanatophoric dysplasia, type I, OMIM:187600; Thanatophoric dysplasia, type II, OMIM:187601

Monogenic short stature Gene: FGFR3