ANOS1

Chr XXLR

anosmin 1

Also known as: ADMLX, HH1, HHA, KAL, KAL1, KALIG-1, KMS, WFDC19

NCBI Gene: 3730ENSG00000011201UniProt: P23352OMIM: 300836

Mutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein is N-glycosylated and may have anti-protease activity. [provided by RefSeq, Jul 2008]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)MIM #308700
XLR

Clinical highlights

Gene-disease validity (ClinGen)
hypogonadotropic hypogonadism 1 with or without anosmia · XLDefinitivesufficient evidence for diagnostic panels
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.
0
Active trials
22
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.25
LOEUF· LoF intol.
—
Mechanism
📖
GeneReview available — ANOS1
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.25LOEUF
pLI 0.998
Z-score 4.69
OE 0.10 (0.04–0.25)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
0.89Z-score
OE missense 0.85 (0.76–0.95)
221 obs / 261.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.10 (0.04–0.25)
0≤0.351.4
Missense OE?0.85 (0.76–0.95)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 3 / 31.3Missense obs/exp: 221 / 261.3Syn Z: 0.09

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ANOS1 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients