Craniosynostosis

Gene: FGFR1

Green List (high evidence)

FGFR1 (fibroblast growth factor receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000077782
EnsemblGeneIds (GRCh37): ENSG00000077782
OMIM: 136350, Gene2Phenotype
FGFR1 is in 19 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Green (codon P252 only) -P252 prescreened in R99, LOF variants are associated with hpogonadotropic hypogonadism 2 with or without anosmia. Other GOF variants associated with other disorders that do not have CSS. ; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Craniosynostosis

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: FGFR1; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

Richard Scott (Genomics England Curator)

Comment on mode of pathogenicity: Only a very limited number of gain of function mutations are associated with craniosynostosis; heterozygous loss-of-function associated with hypotrophic hypogonadism, anosmia and cleft lip/palate
Created: 1 Feb 2016, 11:03 a.m.
Comment on list classification: Current diagnostic
Created: 1 Feb 2016, 11:03 a.m.

Andrew Wilkie (University of Oxford)

Green List (high evidence)

Only a very limited number of gain of function mutations are associated with craniosynostosis; heterozygous loss-of-function associated with hypotrophic hypogonadism, anosmia and cleft lip/palate. Biallelic mutations in Hartsfield syndrome
Created: 14 Sep 2015, 11:36 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pfeiffer syndrome (mild); osteoglophonic dysplasia

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Craniosynostosis
OMIM
136350
Clinvar variants
Variants in FGFR1
Penetrance
Complete
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

5 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to FGFR1. Rating Changed from Green List (high evidence) to Green List (high evidence)

1 Feb 2016, Gel status: 4

Set mode of pathogenicity

Richard Scott (Genomics England Curator)

Mode of pathogenicity for FGFR1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

1 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for FGFR1 were set to 7874169; 15625620

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

1 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

12 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FGFR1 was added to Craniosynostosis syndromespanel. Sources: Eligibility statement prior genetic testing

27 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

FGFR1 was added to Craniosynostosis syndromespanel. Sources: Expert list

27 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

FGFR1 was added to Craniosynostosis syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services