FEZF1

Chr 7

FEZ family zinc finger 1

Also known as: FEZ, HH22, ZNF312B

NCBI Gene: 389549ENSG00000128610UniProt: A0PJY2

This gene encodes a transcriptional repressor that belongs to the zinc finger double domain protein family. The encoded protein is thought to play a role in the embryonic migration of gonadotropin-releasing hormone neurons into the brain. Mutations in this gene are associated with hypogonadotropic hypogonadism-22 with anosmia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHypogonadotropic hypogonadism 22 with or without anosmia

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
15
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.34
LOEUF· LoF intol.
LOF
Mechanism· G2P
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GeneReview available — FEZF1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.34LOEUF
pLI 0.950
Z-score 3.20
OE 0.07 (0.03–0.34)
Highly constrained

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

Missense Constraint?
1.29Z-score
OE missense 0.78 (0.69–0.87)
210 obs / 269.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.07 (0.03–0.34)
0≤0.351.4
Missense OE?0.78 (0.69–0.87)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 1 / 13.9Missense obs/exp: 210 / 269.7Syn Z: 0.16

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FEZF1 · 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.

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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