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  3. FGF17
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Hypogonadotropic hypogonadism

Gene: FGF17

Red List (low evidence)
FGF17 (fibroblast growth factor 17)
EnsemblGeneIds (GRCh38): ENSG00000158815
EnsemblGeneIds (GRCh37): ENSG00000158815
OMIM: 603725, Gene2Phenotype
FGF17 is in 3 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on list classification: Discussed as a group and decided not enough evidence at this time
Created: 7 Jun 2016, 8:21 a.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 1/4 sources. No reviewers comments. Three variants identified in patients, two predicted to be LOF, one these found together with four variants in other relevant genes (PMID 23643382)
Created: 1 Jun 2016, 1:19 p.m.
Created: 1 Jun 2016, 1:19 p.m.

Panel version: 0.81

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Hypogonadotropic hypogonadism 20 with or without anosmia 615270
Tags
monogenic-polygenic
OMIM
603725
Clinvar variants
Variants in FGF17
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Oct 2016, Gel status: 1

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.

20 Jun 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for FGF17 were set to Hypogonadotropic hypogonadism 20 with or without anosmia 615270

7 Jun 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for FGF17 were set to PMID: 23643382

7 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

3 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

1 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

1 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

1 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

1 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

1 Jun 2016, Gel status: 1

Upload gene information

Sarah Leigh (Genomics England Curator)

FGF17 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Other,Radboud University Medical Center, Nijmegen

1 Jun 2016, Gel status: 0

clearsources

Sarah Leigh (Genomics England Curator)

FGF17All sources for gene: FGF17 were removed

17 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

FGF17 was created by sleigh

17 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

FGF17 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM