PLAGL1
Chr 6PLAG1 like zinc finger 1
Also known as: LOT1, ZAC, ZAC1
This gene encodes a zinc finger transcriptional activator that suppresses cell growth and is subject to paternal imprinting. Mutations cause transient neonatal diabetes mellitus, which typically presents in the first weeks of life and often resolves by 18 months of age. The gene is highly constrained against loss-of-function variants, and the condition follows an imprinted inheritance pattern with preferential expression from the paternal allele.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
104 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 | 0 | 18 | 0 | 18 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 55 | 1 | 0 | 56 |
Likely Benign | 0 | 5 | 0 | 6 | 11 |
Benign | 0 | 4 | 1 | 6 | 11 |
| Total | 0 | 64 | 20 | 12 | 96 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PLAGL1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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