ATOH7 Chromosome 10
Atonal bHLH transcription factor 7
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What This Gene Does
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]
Gene Info
Gene Group
Basic helix-loop-helix proteins
Locus Type
gene with protein product
Location
10q21.3
Ensembl
ENSG00000179774
Associated Conditions (4)
Persistent hyperplastic primary vitreous
autosomal recessive
Foveal hypoplasia
Optic nerve hypoplasia
Key Variants
RS776797595
Conflicting classifications of pathogenicity
Health Risk
RS774558993
Likely pathogenic
Persistent hyperplastic primary vitreous, autosomal recessive, Persistent hyperplastic primary vitreous
Health Risk
RS138274069
Pathogenic
Foveal hypoplasia, Optic nerve hypoplasia, Foveal hypoplasia
Health Risk
RS587777664
Pathogenic
Persistent hyperplastic primary vitreous, autosomal recessive, Persistent hyperplastic primary vitreous
Health Risk
RS587777666
Pathogenic
Persistent hyperplastic primary vitreous, autosomal recessive, Persistent hyperplastic primary vitreous
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS776797595 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774558993 | Health Risk | Likely pathogenic | Persistent hyperplastic primary vitreous, autosomal recessive, Persistent hyperplastic primary vitreous |
| RS138274069 | Health Risk | Pathogenic | Foveal hypoplasia, Optic nerve hypoplasia, Foveal hypoplasia |
| RS587777664 | Health Risk | Pathogenic | Persistent hyperplastic primary vitreous, autosomal recessive, Persistent hyperplastic primary vitreous |
| RS587777666 | Health Risk | Pathogenic | Persistent hyperplastic primary vitreous, autosomal recessive, Persistent hyperplastic primary vitreous |