This Panel is marked as Retired
Growth failure in early childhood
Gene: FGFR3
FGFR3 (fibroblast growth factor receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000068078
EnsemblGeneIds (GRCh37): ENSG00000068078
OMIM: 134934, Gene2Phenotype
FGFR3 is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000068078
EnsemblGeneIds (GRCh37): ENSG00000068078
OMIM: 134934, Gene2Phenotype
FGFR3 is in 24 panels
1 review
Rebecca Foulger (Genomics England curator)
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.
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
-
- Intellectual disability
- Fetal anomalies
- Skeletal dysplasia
- Early onset or syndromic epilepsy
- Paediatric or syndromic cardiomyopathy
- Clefting
- Radial dysplasia
- Multiple monogenic benign skin tumours
- VACTERL-like phenotypes
- Limb disorders
- Monogenic short stature
- Deafness and congenital structural abnormalities
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Osteogenesis imperfecta
- Mosaic skin disorders - deep sequencing
- Insulin resistance (including lipodystrophy)
- Monogenic hearing loss
- Choanal atresia
- Arthrogryposis
- Common craniosynostosis syndromes
- Thanatophoric dysplasia
- Monogenic diabetes
- Hydrocephalus
- DDG2P
History Filter Activity
26 Mar 2024, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FGFR3 were changed from Hypochondroplasia, 146000 to Hypochondroplasia, OMIM:146000; Crouzon syndrome with acanthosis nigricans, OMIM:612247; Thanatophoric dysplasia, type I, OMIM:187600; Thanatophoric dysplasia, type II, OMIM:187601
30 May 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: FGFR3 was added gene: FGFR3 was added to Growth failure in early childhood. 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, 146000