Choanal atresia

Gene: FGFR2

Green List (high evidence)

FGFR2 (fibroblast growth factor receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 21 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM and G2P. Numerous variants reported
Created: 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 609579
Created: 11 Aug 2016, 6:56 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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

History Filter Activity

11 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1, 11th August 2016

11 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Aug 2016, Gel status: 4

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

11 Aug 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for FGFR2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

11 Aug 2016, Gel status: 4

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

12 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FGFR2 was added to Choanal atresiapanel. Sources: Eligibility statement prior genetic testing