Structural eye disease
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
Gene: atoh7 has been classified as Green List (High Evidence).
Source NHS GMS was added to ATOH7. Added phenotypes Persistent hyperplastic primary vitreous, autosomal recessive (can include microphthalmia), 221900 for gene: ATOH7 Publications for gene ATOH7 were changed from 1838; 8779 to 11493566; 22068589; 1838; 8779
gene: ATOH7 was added gene: ATOH7 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: ATOH7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATOH7 were set to 1838; 8779 Phenotypes for gene: ATOH7 were set to AR Persistent hyperplasia of primary vitreous - optic nerve dysplasia, retinal detachment