Choanal atresia
Gene: FGFR2EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 20 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Choanal atresia/stenosis is a feature of several FGFR2-related disorders. Disease associations are well established.Created: 25 Mar 2021, 10:06 p.m. | Last Modified: 25 Mar 2021, 10:06 p.m.
Panel Version: 0.8
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Apert syndrome 101200; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Craniosynostosis, nonspecific; Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Beare-Stevenson cutis gyrata syndrome 123790
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Eligibility statement prior genetic testing
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Apert syndrome 101200
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
- Craniosynostosis, nonspecific
- Pfeiffer syndrome 101600
- Craniofacial-skeletal-dermatologic dysplasia 101600
- Beare-Stevenson cutis gyrata syndrome 123790
- OMIM
- 176943
- Clinvar variants
- Variants in FGFR2
- Penetrance
- None
- Panels with this gene
-
- Polydactyly
- Clefting disorders
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Differences of Sex Development
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
- Hydrocephalus_Ventriculomegaly
- Skeletal Dysplasia_Fetal
- Radial Ray Abnormalities
- Craniosynostosis
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Choanal atresia
- Arthrogryposis
- Mosaic skin disorders
- Mendeliome
- Interstitial Lung Disease
- Callosome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fgfr2 has been classified as Green List (High Evidence).
Added New Source, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Source Genomics England PanelApp was added to FGFR2. Added phenotypes Apert syndrome 101200; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Craniosynostosis, nonspecific; Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Beare-Stevenson cutis gyrata syndrome 123790 for gene: FGFR2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FGFR2 was added gene: FGFR2 was added to Choanal atresia. Sources: Expert Review Green,Illumina TruGenome Clinical Sequencing Services,Eligibility statement prior genetic testing,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: FGFR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FGFR2 were set to Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Apert syndrome 101200; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Beare-Stevenson cutis gyrata syndrome 123790; Craniosynostosis, nonspecific