1. Panels
  2. Fetal anomalies
  3. FGFR2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: FGFR2

Green List (high evidence)
FGFR2 (fibroblast growth factor receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 20 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association with multiple craniosynostosis syndromes. Radial ray abnormalities are a feature of LADD syndrome.
Sources: Expert list
Created: 23 Jul 2020, 11:39 p.m. | Last Modified: 21 Dec 2021, 7:06 a.m.
Panel Version: 0.1592

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
LADD syndrome, MIM#149730; Apert syndrome, MIM# 101200; Crouzon syndrome, MIM# 123500; Jackson-Weiss syndrome, MIM# 123150; Pfeiffer syndrome, MIM# 101600; Saethre-Chotzen syndrome, MIM# 101400

Created: 23 Jul 2020, 11:39 p.m.
Last Modified: 21 Dec 2021, 7:06 a.m.
Panel version: 0.1592

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • LADD syndrome, MIM#149730
  • Apert syndrome, MIM# 101200
  • Crouzon syndrome, MIM# 123500
  • Jackson-Weiss syndrome, MIM# 123150
  • Pfeiffer syndrome, MIM# 101600
  • Saethre-Chotzen syndrome, MIM# 101400
OMIM
176943
Clinvar variants
Variants in FGFR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

21 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FGFR2 were changed from JACKSON-WEISS SYNDROME; FAMILIAL SCAPHOCEPHALY SYNDROME; CROUZON SYNDROME; LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME; BEARE-STEVENSON CUTIS GYRATA SYNDROME; ACROCEPHALOSYNDACTYLY TYPE V; APERT SYNDROME; ANTLEY-BIXLER SYNDROME to LADD syndrome, MIM#149730; Apert syndrome, MIM# 101200; Crouzon syndrome, MIM# 123500; Jackson-Weiss syndrome, MIM# 123150; Pfeiffer syndrome, MIM# 101600; Saethre-Chotzen syndrome, MIM# 101400

21 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FGFR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FGFR2 was added gene: FGFR2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FGFR2 were set to 28425981 Phenotypes for gene: FGFR2 were set to JACKSON-WEISS SYNDROME; FAMILIAL SCAPHOCEPHALY SYNDROME; CROUZON SYNDROME; LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME; BEARE-STEVENSON CUTIS GYRATA SYNDROME; ACROCEPHALOSYNDACTYLY TYPE V; APERT SYNDROME; ANTLEY-BIXLER SYNDROME