FGF17
Chr 8ADfibroblast growth factor 17
Also known as: FGF-13, FGF-17, HH20
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.
Primary Disease Associations & Inheritance
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
157 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 1 | 78 | 0 | 79 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 1 | 24 | 13 | 0 | 38 |
Likely Benign | 0 | 1 | 10 | 12 | 23 |
Benign | 0 | 0 | 8 | 3 | 11 |
| Total | 1 | 26 | 112 | 15 | 154 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FGF17 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools