GNRH1

Chr 8AR

gonadotropin releasing hormone 1

Also known as: GNRH, GRH, LHRH, LNRH

This gene encodes a preproprotein that is proteolytically processed to generate a peptide that is a member of the gonadotropin-releasing hormone (GnRH) family of peptides. Alternative splicing results in multiple transcript variants, at least one of which is secreted and then cleaved to generate gonadoliberin-1 and GnRH-associated peptide 1. Gonadoliberin-1 stimulates the release of luteinizing and follicle stimulating hormones, which are important for reproduction. Mutations in this gene are associated with hypogonadotropic hypogonadism. [provided by RefSeq, Nov 2015]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Hypogonadotropic hypogonadism 12 with or without anosmiaMIM #614841
AR

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.
5
Active trials
51
Pubs (1 yr)
P/LP submissions
P/LP missense
1.05
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — GNRH1
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.05LOEUF
pLI 0.151
Z-score 1.51
OE 0.33 (0.141.05)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.16Z-score
OE missense 0.94 (0.741.19)
49 obs / 52.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.33 (0.141.05)
00.351.4
Missense OE?0.94 (0.741.19)
00.61.4
Synonymous OE?0.99
01.21.6
LoF obs/exp: 2 / 6.0Missense obs/exp: 49 / 52.3Syn Z: 0.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

GNRH1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.