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 1.45

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
Red ATOH7 in DDG2P


Version 3.79
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • RETINAL NON-ATTACHMENT CONGENITAL NON-SYNDROMIC 221900
    Green ATOH7 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.81
    Latest signed off version: v4.0 (22 Mar 2023)

    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


    Version 3.74
    Latest signed off version: v3.0 (22 Mar 2023)

    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