TSHZ1
Chr 18ADteashirt zinc finger homeobox 1
Also known as: CAA, NY-CO-33, SDCCAG33, TSH1
This gene encodes a zinc-finger transcriptional regulator involved in developmental processes. Mutations cause congenital aural atresia syndrome with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variation (pLI 0.997), suggesting mutations likely have significant developmental consequences.
Primary Disease Associations & Inheritance
Limited evidence — not for standalone diagnostic reporting
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).
Literature Evidence
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
423 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 | 145 | 0 | 145 |
Likely Pathogenic | 1 | 0 | 7 | 0 | 8 |
VUS | 1 | 193 | 13 | 0 | 207 |
Likely Benign | 1 | 18 | 0 | 22 | 41 |
Benign | 0 | 7 | 0 | 10 | 17 |
| Total | 3 | 218 | 165 | 32 | 418 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TSHZ1 · 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