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Thanatophoric dysplasia
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
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #187600 & #187601) and the OMIM records were last accessed on 29 December 2025.Created: 29 Dec 2025, 1:39 p.m. | Last Modified: 29 Dec 2025, 1:39 p.m.
Panel Version: 1.2
FGFR3 has been added to the panel for R25 Thanatophoric dysplasia with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 3:58 p.m. | Last Modified: 30 Jun 2023, 3:58 p.m.
Panel Version: 0.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Thanatophoric dysplasia, type I, OMIM:187600
- Thanatophoric dysplasia, type II, OMIM:187601
- thanatophoric dysplasia, MONDO:0017042
- OMIM
- 134934
- Clinvar variants
- Variants in FGFR3
- Penetrance
- None
- Panels with this gene
-
- Radial dysplasia
- Monogenic diabetes
- VACTERL-like phenotypes
- Deafness and congenital structural abnormalities
- Multiple monogenic benign skin tumours
- Early onset or syndromic epilepsy
- Limb disorders
- DDG2P
- Insulin resistance (including lipodystrophy)
- Intellectual disability
- Monogenic short stature
- Common craniosynostosis syndromes
- Choanal atresia
- Osteogenesis imperfecta
- Clefting
- Thanatophoric dysplasia
- Hydrocephalus
- Mosaic skin disorders - deep sequencing
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Fetal anomalies
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
29 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: FGFR3 were changed from to Thanatophoric dysplasia, type I, OMIM:187600; Thanatophoric dysplasia, type II, OMIM:187601; thanatophoric dysplasia, MONDO:0017042
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: FGFR3 was added gene: FGFR3 was added to Thanatophoric dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown