GZF1
Chr 20ARGDNF inducible zinc finger protein 1
Also known as: JLSM, ZBTB23, ZNF336
GZF1 encodes a transcriptional repressor that binds specific DNA sequences to negatively regulate RNA polymerase II-mediated transcription, including regulation of VSX2/HOX10 expression. Biallelic mutations cause an autosomal recessive disorder characterized by joint laxity, short stature, and myopia. The gene shows tolerance to loss-of-function variants in the general population (pLI 0.002, LOEUF 0.646).
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
318 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 | 8 | 0 | 20 | 0 | 28 |
Likely Pathogenic | 1 | 0 | 4 | 0 | 5 |
VUS | 6 | 136 | 12 | 0 | 154 |
Likely Benign | 0 | 11 | 18 | 72 | 101 |
Benign | 0 | 5 | 15 | 3 | 23 |
Conflicting | — | 2 | |||
| Total | 15 | 152 | 69 | 75 | 313 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GZF1 · 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 →No open access results found
External Resources
Links to major genomics databases and tools