Choanal atresia
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, specific variant p.(Ala391Glu). Choanal stenosis/atresia is a feature.Created: 26 Mar 2021, 9:50 a.m. | Last Modified: 26 Mar 2021, 9:50 a.m.
Panel Version: 0.8
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Crouzon syndrome with acanthosis nigricans 612247
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
- UKGTN
- Phenotypes
-
- Crouzon syndrome with acanthosis nigricans 612247
- OMIM
- 134934
- Clinvar variants
- Variants in FGFR3
- Penetrance
- None
- Publications
- 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 publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FGFR3 were set to 20199409; 17935505; 11426459
Added New Source, Set Phenotypes, Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Source Genomics England PanelApp was added to FGFR3. Added phenotypes Crouzon syndrome with acanthosis nigricans 612247 for gene: FGFR3 Publications for gene FGFR3 were updated from 11426459; 17935505; 20199409 to 20199409; 17935505; 11426459
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FGFR3 was added gene: FGFR3 was added to Choanal atresia. Sources: UKGTN,Eligibility statement prior genetic testing,Expert Review Green,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGFR3 were set to 11426459; 17935505; 20199409 Phenotypes for gene: FGFR3 were set to Crouzon syndrome with acanthosis nigricans 612247