ZMIZ1
Chr 10ADzinc finger MIZ-type containing 1
Also known as: MIZ, NEDDFSA, RAI17, TRAFIP10, ZIMP10
This protein acts as a transcriptional coactivator that regulates multiple signaling pathways including androgen receptor, TGF-beta/SMAD, and NOTCH1, and is involved in pyramidal neuron positioning during cerebral cortex development. Mutations cause neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
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
449 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 | 7 | 2 | 15 | 0 | 24 |
Likely Pathogenic | 17 | 4 | 5 | 1 | 27 |
VUS | 3 | 170 | 18 | 4 | 195 |
Likely Benign | 0 | 18 | 46 | 87 | 151 |
Benign | 0 | 13 | 7 | 4 | 24 |
Conflicting | — | 7 | |||
| Total | 27 | 207 | 91 | 96 | 428 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ZMIZ1 · 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 →External Resources
Links to major genomics databases and tools