Glaucoma (developmental)
Gene: ATOH7
Khan: two families, also animal model by BrownCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Persistent hyperplastic primary vitreous, autosomal recessive (can include microphthalmia); 221900
Publications
Comment on list classification: Promoted from red to green as there is sufficient evidence.Created: 24 Apr 2019, 2:38 p.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Khan: two families, also animal model by BrownCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Persistent hyperplastic primary vitreous, autosomal recessive (can include microphthalmia), 221900
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AR Persistent hyperplasia of primary vitreous - optic nerve dysplasia, retinal detachment
Publications
Variants in this GENE are reported as part of current diagnostic practice
27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
This gene has been classified as Red List (Low Evidence).
ATOH7 was created by Chricampbell
ATOH7 was added to Glaucoma (developmental)panel. Sources: GDL Glaucoma panel