Hypogonadotropic hypogonadism idiopathic

Gene: FGF17

Amber List (moderate evidence)

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

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype.

PMID: 23643382 identfied 3 cases with variants in the FGF17 gene. However, 1 of these cases have variants in other genes as well (FLRT3, HS6ST1 and FGFR1).

Based on the available evidence variants in this gene contribute to disease with variable penetrance. This gene has been given an Amber rating until further evidence is available.
Created: 1 Apr 2021, 1 p.m. | Last Modified: 1 Apr 2021, 1 p.m.
Panel Version: 1.41

Zornitza Stark (Australian Genomics)

I don't know

PMID: 23643382 - 3 individuals with Kallman syndrome or idiopathic hypogonadotropic hypogonadism (IHH). Functional studies on missense showed reduced protein expression and destabilization, one individual had additional variants in other genes.

PMID: 31748124 - 3 individuals with IHH, where two individuals inherited variants from unaffected parents.
Sources: Expert list
Created: 15 Jul 2020, 7:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypogonadotropic hypogonadism 20 with or without anosmia, MIM# 615270

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Hypogonadotropic hypogonadism 20 with or without anosmia, OMIM:615270
Tags
Q2_21_expert_review
OMIM
603725
Clinvar variants
Variants in FGF17
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

1 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: fgf17 has been classified as Amber List (Moderate Evidence).

1 Apr 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_expert_review tag was added to gene: FGF17.

23 Mar 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: FGF17 were changed from Hypogonadotropic hypogonadism 20 with or without anosmia, MIM# 615270 to Hypogonadotropic hypogonadism 20 with or without anosmia, OMIM:615270

15 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Zornitza Stark (Australian Genomics)

gene: FGF17 was added gene: FGF17 was added to Hypogonadotropic hypogonadism idiopathic. Sources: Expert list Mode of inheritance for gene: FGF17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGF17 were set to 23643382; 31748124 Phenotypes for gene: FGF17 were set to Hypogonadotropic hypogonadism 20 with or without anosmia, MIM# 615270 Penetrance for gene: FGF17 were set to Incomplete Review for gene: FGF17 was set to AMBER