1. Genes and Genomic Entities
  2. ATOH7

ATOH7

atonal bHLH transcription factor 7
OMIM: 609875, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red ATOH7 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.47

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Red
  • GDL Glaucoma panel
Phenotypes
  • AR Persistent hyperplasia of primary vitreous - optic nerve dysplasia, retinal detachment
Green ATOH7 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • ATOH7-related persistent hyperplastic primary vitreous, OMIM:221900
    Green ATOH7 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Persistent hyperplastic primary vitreous, autosomal recessive, 221900
    • multiple ocular developmental defects, including severe vitreoretinal dysplasia, optic nerve hypoplasia, persistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corneal opacity and nystagmus
    Green ATOH7 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • AR Persistent hyperplasia of primary vitreous - optic nerve dysplasia, retinal detachment
    • Persistent hyperplastic primary vitreous, autosomal recessive (can include microphthalmia), 221900