FGF17

Chr 8AD

fibroblast growth factor 17

Also known as: FGF-13, FGF-17, HH20

NCBI Gene: 8822 ENSG00000158815 UniProt: O60258 OMIM: 603725

This gene encodes fibroblast growth factor 17, which regulates embryonic brain development and patterning and is required for normal brain development. Mutations cause autosomal dominant hypogonadotropic hypogonadism with or without anosmia (Kallmann syndrome), affecting reproductive hormone regulation and sometimes sense of smell. The gene is highly constrained against loss-of-function variants (pLI 0.96), indicating that such variants are likely to be pathogenic.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the fibroblast growth factor (FGF) family. Member of the FGF family possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is expressed during embryogenesis and in the adult cerebellum and cortex and may be essential for vascular growth and normal brain development. Mutations in this gene are the cause of hypogonadotropic hypogonadism 20 with or without anosmia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Hypogonadotropic hypogonadism 20 with or without anosmiaMIM #615270

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.30

LOEUF· LoF intol.

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Mechanism