ATOH7

Chr 10AR

atonal bHLH transcription factor 7

Also known as: Math5, NCRNA, PHPVAR, RNANC, bHLHa13

NCBI Gene: 220202ENSG00000179774UniProt: Q8N100OMIM: 609875

This intronless gene encodes a member of the basic helix-loop-helix family of transcription factors, with similarity to Drosophila atonal gene that controls photoreceptor development. Studies in mice suggest that this gene plays a central role in retinal ganglion cell and optic nerve formation. Mutations in this gene are associated with nonsyndromic congenital retinal nonattachment. [provided by RefSeq, Dec 2011]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Persistent hyperplastic primary vitreous, autosomal recessiveMIM #221900
AR

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.66
LOEUF
LOF
Mechanism· G2P

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.66LOEUF
pLI 0.051
Z-score 0.68
OE 0.60 (0.24–1.66)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.31Z-score
OE missense 0.89 (0.72–1.11)
58 obs / 64.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.60 (0.24–1.66)
0≤0.351.4
Missense OE?0.89 (0.72–1.11)
0≤0.61.4
Synonymous OE?1.28
0≤1.21.6
LoF obs/exp: 2 / 3.3Missense obs/exp: 58 / 64.9Syn Z: -1.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ATOH7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients