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  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. FGF17
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: FGF17

Amber List (moderate evidence)
FGF17 (fibroblast growth factor 17)
EnsemblGeneIds (GRCh38): ENSG00000158815
EnsemblGeneIds (GRCh37): ENSG00000158815
OMIM: 603725, Gene2Phenotype
FGF17 is in 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A single female with a diagnosis of Kallmann syndrome appears to have an oligenic cause, including an FGF17 missense (p.Ile108Thr) which has an additive loss of function effect in functional assays. Two other heterozygous missense (p.Arg177His & p.Asn187Ser) were identified in 2 male sporadic cases with congenital hypogonadotropic hypogonadism. p.Arg177His, but not p.Asn187Ser demonstrated loss of function in in vitro functional assays. Fgf17 null mouse model has medial cerebellar defects and frontal cortex anomalies.
Created: 26 Jun 2020, 6:59 a.m. | Last Modified: 26 Jun 2020, 6:59 a.m.
Panel Version: 0.16

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypogonadotropic hypogonadism 20 with or without anosmia MIM#615270

Publications

Created: 26 Jun 2020, 6:59 a.m.
Last Modified: 26 Jun 2020, 6:59 a.m.
Panel version: 0.16

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Hypogonadotropic hypogonadism 20 with or without anosmia 615270
OMIM
603725
Clinvar variants
Variants in FGF17
Penetrance
None
Panels with this gene

History Filter Activity

26 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

26 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

24 Jun 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: FGF17 was added gene: FGF17 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: FGF17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGF17 were set to Hypogonadotropic hypogonadism 20 with or without anosmia 615270