ATOH1
Chr 4ADatonal bHLH transcription factor 1
Also known as: ATH1, DFNA89, HATH1, MATH-1, bHLHa14
ATOH1 encodes a transcriptional regulator that activates E box-dependent transcription and plays a critical role in neural cell differentiation, particularly in the development of auditory receptor cells in the inner ear. Mutations cause autosomal dominant nonsyndromic deafness 89, affecting primarily hearing function. The gene shows tolerance to loss-of-function variants (low pLI score), suggesting the pathogenic variants may involve other mechanisms.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
101 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 | 1 | 0 | 18 | 0 | 19 |
Likely Pathogenic | 2 | 0 | 3 | 0 | 5 |
VUS | 1 | 62 | 6 | 0 | 69 |
Likely Benign | 0 | 1 | 0 | 2 | 3 |
Benign | 0 | 3 | 0 | 2 | 5 |
| Total | 4 | 66 | 27 | 4 | 101 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ATOH1 · 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