Incidentalome_PREGEN_DRAFT
Gene: FGFR3
FGFR3 (fibroblast growth factor receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000068078
EnsemblGeneIds (GRCh37): ENSG00000068078
OMIM: 134934, Gene2Phenotype
FGFR3 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000068078
EnsemblGeneIds (GRCh37): ENSG00000068078
OMIM: 134934, Gene2Phenotype
FGFR3 is in 21 panels
1 review
Tony Roscioli (New South Wales Health Pathology)
A cause of early onset Mendelian disorders and so should be removed from this panelCreated: 7 Jan 2021, 1:23 a.m. | Last Modified: 7 Jan 2021, 1:23 a.m.
Panel Version: 0.12
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- NSW Health Pathology
- OMIM
- 134934
- Clinvar variants
- Variants in FGFR3
- Penetrance
- None
- Panels with this gene
-
- Polydactyly
- Clefting disorders
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
- Hydrocephalus_Ventriculomegaly
- Radial Ray Abnormalities
- Craniosynostosis
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Choanal atresia
- Arthrogryposis
- Mosaic skin disorders
- Mendeliome
- Callosome
- Growth failure
History Filter Activity
7 Jan 2021, Gel status: 1
Entity classified by Genomics England curator
Tony Roscioli (New South Wales Health Pathology)Gene: fgfr3 has been classified as Red List (Low Evidence).
9 Nov 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FGFR3 was added gene: FGFR3 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology Mode of inheritance for gene: FGFR3 was set to Unknown