Craniosynostosis
Gene: FGFR3EnsemblGeneIds (GRCh38): ENSG00000068078
EnsemblGeneIds (GRCh37): ENSG00000068078
OMIM: 134934, Gene2Phenotype
FGFR3 is in 21 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association with multiple skeletal phenotypes including craniosynostosis syndromes.Created: 7 Oct 2020, 8:07 a.m. | Last Modified: 7 Oct 2020, 8:07 a.m.
Panel Version: 0.165
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Crouzon syndrome with acanthosis nigricans, MIM# 612247; Muenke syndrome, MIM# 602849
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Crouzon syndrome with acanthosis nigricans, MIM# 612247
- Muenke syndrome, MIM# 602849
- OMIM
- 134934
- Clinvar variants
- Variants in FGFR3
- Penetrance
- None
- Mode of Pathogenicity
- Other
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fgfr3 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FGFR3 were changed from to Crouzon syndrome with acanthosis nigricans, MIM# 612247; Muenke syndrome, MIM# 602849
Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of pathogenicity for gene: FGFR3 was changed from to Other
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: FGFR3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FGFR3 was set to Unknown