Choanal atresia
Gene: FGFR2EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 23 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotypes in OMIM and G2P. Numerous variants reportedCreated: 11 Aug 2016, 6:58 a.m.
Comment on phenotypes: Variants also reported in Bent bone dysplasia syndrome 614592, Crouzon syndrome 123500, Gastric cancer, somatic 613659, Jackson-Weiss syndrome 123150, LADD syndrome 149730, Saethre-Chotzen syndrome 101400, Scaphocephaly and Axenfeld-Rieger anomaly, Scaphocephaly, maxillary retrusion, and mental retardation 609579Created: 11 Aug 2016, 6:56 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
- Eligibility statement prior genetic testing
- Phenotypes
-
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
- Apert syndrome 101200
- Beare-Stevenson cutis gyrata syndrome 123790
- Pfeiffer syndrome 101600
- Craniofacial-skeletal-dermatologic dysplasia 101600
- Craniosynostosis, nonspecific
- OMIM
- 176943
- Clinvar variants
- Variants in FGFR2
- Penetrance
- Complete
- Panels with this gene
-
- Mosaic skin disorders - deep sequencing
- Arthrogryposis
- Monogenic hearing loss
- Skeletal dysplasia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Radial dysplasia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- VACTERL-like phenotypes
- Limb disorders
- Deafness and congenital structural abnormalities
- Multiple monogenic benign skin tumours
- DDG2P
- Differences in sex development
- Clefting
- Common craniosynostosis syndromes
- Choanal atresia
- Osteogenesis imperfecta
- Familial hidradenitis suppurativa
- Likely inborn error of metabolism
- Hydrocephalus
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: FGFR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q1_22_MOI was removed from gene: FGFR2.
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q1_22_MOI tag was added to gene: FGFR2.
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1, 11th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for FGFR2 were set to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Craniosynostosis, nonspecific
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for FGFR2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Upload gene information
Sarah Leigh (Genomics England Curator)FGFR2 was added to Choanal atresiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)FGFR2 was added to Choanal atresiapanel. Sources: Eligibility statement prior genetic testing