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Research panel - 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
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

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene FGFR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene FGFR1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: FGFR1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: FGFR1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: FGFR1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Jackson-Weiss syndrome, 123150; Trigonocephaly 1, 190440; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Osteoglophonic dysplasia, 166250; Pfeiffer syndrome, 101600; Hartsfield syndrome, 615465 for gene: FGFR1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to FGFR1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to FGFR1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: FGFR1 was added gene: FGFR1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: FGFR1 was set to