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  3. FGF17
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Differences of Sex Development

Gene: FGF17

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Comment when marking as ready: Borderline Green/Amber: contribution may not be monogenic.
Created: 15 Jul 2020, 7:48 a.m. | Last Modified: 15 Jul 2020, 7:48 a.m.
Panel Version: 0.109
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.
Created: 15 Jul 2020, 7:46 a.m. | Last Modified: 15 Jul 2020, 7:46 a.m.
Panel Version: 0.107

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 15 Jul 2020, 7:46 a.m.
Last Modified: 15 Jul 2020, 7:46 a.m.
Panel version: 0.107

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
OMIM
603725
Clinvar variants
Variants in FGF17
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fgf17 has been classified as Green List (High Evidence).

15 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FGF17 were set to

15 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FGF17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FGF17 was added gene: FGF17 was added to Disorders of Sex Differentiation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FGF17 was set to Unknown