This Panel is marked as Deleted
Kidneyome_SuperPanel_KidGen_VCGS
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- LADD syndrome, MIM#149730
- OMIM
- 134934
- Clinvar variants
- Variants in FGFR3
- Penetrance
- None
- Panels with this gene
-
- Skeletal dysplasia
- Limb disorders
- Arthrogryposis
- Early onset or syndromic epilepsy
- Radial dysplasia
- Fetal anomalies
- VACTERL-like phenotypes
- Clefting
- Paediatric or syndromic cardiomyopathy
- Deafness and congenital structural abnormalities
- Multiple monogenic benign skin tumours
- Insulin resistance (including lipodystrophy)
- Mosaic skin disorders - deep sequencing
- Common craniosynostosis syndromes
- Choanal atresia
- Thanatophoric dysplasia
- Monogenic short stature
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Intellectual disability
- Hydrocephalus
- Monogenic hearing loss
- Osteogenesis imperfecta
- DDG2P
- Monogenic diabetes
History Filter Activity
24 Dec 2019, Gel status: 3
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes LADD syndrome, MIM#149730 for gene: FGFR3
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: FGFR3 was added gene: FGFR3 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGFR3 were set to LADD syndrome, MIM#149730