ATOH7

Red ATOH7 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

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 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

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 4.89
Latest signed off version: v4.0 (22 Mar 2023)

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 3.77
Latest signed off version: v3.0 (22 Mar 2023)

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