Hypogonadotropic hypogonadism
Gene: FGFR1

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

4 reviews

Richard Quinton (Newcastle University)

Green List (high evidence)

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Changed the mode of inheritance from 'Both' to 'Biallelic', before promoting this panel to version 1 due to internal discussion. It may be that studies reporting monoallelic variants in this gene did not examine fully whether variants in other genes had a second variant and therefore monoallelic variants in this gene may not provide a complete diagnosis.
Created: 28 Oct 2016, 1:15 p.m.

Created: 28 Oct 2016, 1:15 p.m.

Panel version: 0.191

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: Based on reports of homozygosity in the variant descriptions on the OMIM page for this gene
Created: 14 Oct 2016, 11:42 a.m.

Comment on publications: PMID: 17235395 reports autosomal dominant effect of FGFR1 and also oligogenic with NSMF or GNRHR responsible for variable phenotype and penetrance. PMID: 12627230 Reports heterozygous patients with variable phenotypes and homozygous subject of consanguineous parents with severe phenotype
Created: 14 Oct 2016, 11 a.m.

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Found in 4/4 sources. Two reviewers recommend Green. Numerous variants reported
Created: 12 Oct 2016, 2:45 p.m.

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory
UKGTN
OMIM

Phenotypes

Hypogonadotropic hypogonadism 2 with or without anosmia, 147950
Beare-Stevenson Cutis Gyrata Syndrome, 123790
Crouzon Syndrome, 123500
Pfeiffer Syndrome, 101600
Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel (Emory)
Pfeiffer syndrome, 101600
Jackson-Weiss syndrome, 123150
Osteoglophonic dysplasia, 166250
Trigonocephaly 1, 190440
Hartsfield syndrome, 615465
Nonsyndromic Trigonocephaly

Tags

monogenic-polygenic

OMIM

136350

Clinvar variants

Variants in FGFR1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

28 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

28th Oct 2016: This panel was revised after external expert review and internal discussion. For several genes that have been shown to contribute to the disorder in a digenic/polygenic manner, the decision was made to only include genes as green if biallelic variants had been reported independently from other genes. Genes with a monoallelic mechanism, that have been shown in some studies in conjunction with variants in other genes, were made red as monoallelic variants in these genes may not provide a complete diagnosis.

28 Oct 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for FGFR1 was changed to BIALLELIC, autosomal or pseudoautosomal

14 Oct 2016, Gel status: 4