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Undiagnosed metabolic disorders

Gene: FGFR2

Green List (high evidence)

FGFR2 (fibroblast growth factor receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 23 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with 14 phenotypes in OMIM and as confirmed Gen2Phen gene for acrocephalosyndactyly type V, Antley-Bixler syndrome, Apert syndrome, Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome, familial scaphocephaly syndrome, Jackson-Weiss syndrome, lacrimo-auriculo-dento-digital syndrome. At least 44 variants reported.
Created: 13 Aug 2019, 3:04 p.m. | Last Modified: 13 Aug 2019, 3:04 p.m.
Panel Version: 1.136
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 1:58 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Unexplained skeletal dysplasia

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
  • Apert syndrome 101200
  • Beare-Stevenson cutis gyrata syndrome 123790
  • Bent bone dysplasia syndrome 614592
  • Craniofacial-skeletal-dermatologic dysplasia 101600
  • Craniosynostosis, nonspecific
  • Crouzon syndrome 123500
  • Gastric cancer, somatic 613659
  • Jackson-Weiss syndrome 123150
  • LADD syndrome 149730
  • Pfeiffer syndrome 101600
  • Saethre-Chotzen syndrome 101400
  • Scaphocephaly and Axenfeld-Rieger anomaly
  • Scaphocephaly, maxillary retrusion, and mental retardation 609579
OMIM
176943
Clinvar variants
Variants in FGFR2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

13 Aug 2019, Gel status: 3

Set mode of inheritance

Sarah Leigh (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

13 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: fgfr2 has been classified as Green List (High Evidence).

13 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: FGFR2 were changed from Antley-Bixler syndrome type without disordered steroidogenesis; Arthrogryposis; Bilateral microtia; Choanal atresia; Craniosynostosis syndromes phenotypes; Deafness and congenital structural abnormalities; Unexplained skeletal dysplasia to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Bent bone dysplasia syndrome 614592; Craniofacial-skeletal-dermatologic dysplasia 101600; Craniosynostosis, nonspecific; Crouzon syndrome 123500; Gastric cancer, somatic 613659; Jackson-Weiss syndrome 123150; LADD syndrome 149730; Pfeiffer syndrome 101600; Saethre-Chotzen syndrome 101400; Scaphocephaly and Axenfeld-Rieger anomaly; Scaphocephaly, maxillary retrusion, and mental retardation 609579

27 Feb 2017, Gel status: 2

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added

6 Jan 2017, Gel status: 2

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene FGFR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

6 Jan 2017, Gel status: 2

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

6 Jan 2017, Gel status: 2

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene FGFR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

6 Jan 2017, Gel status: 2

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 Jan 2017, Gel status: 2

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

FGFR2 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Amber Model of inheritance for gene FGFR2 was set to BIALLELIC, autosomal or pseudoautosomal

28 Oct 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

FGFR2 was added to Undiagnosed metabolic disorderspanel. Sources: Literature

28 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

FGFR2 was created by sleigh