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Severe Paediatric Disorders

Gene: FGFR1

Green List (high evidence)

FGFR1 (fibroblast growth factor receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000077782
EnsemblGeneIds (GRCh37): ENSG00000077782
OMIM: 136350, Gene2Phenotype
FGFR1 is in 20 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: FGFR1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Hartsfield syndrome, 615465 (3) | Hypogonadotropic hypogonadism 2 with or without anosmia, 147950 (3) | Jackson-Weiss syndrome, 123150 (3) | Osteoglophonic dysplasia, 166250 (3) | Pfeiffer syndrome, 101600 (3) | Trigonocephaly 1, 190440 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Pfeiffer syndrome, 101600
  • Osteoglophonic dysplasia, 166250
  • Hypogonadotropic hypogonadism 2 with or without anosmia, 147950
  • Hartsfield syndrome, 615465
  • Jackson-Weiss syndrome, 123150
  • Trigonocephaly 1, 190440
OMIM
136350
Clinvar variants
Variants in FGFR1
Penetrance
None
Publications
Panels with this gene