Glaucoma (developmental)
Gene: PITX3
Rosemann: mutant mice have microphthalmia. Zazo Ceco: four families with anterior segment disorders and/or microphthalmia. Semina one case with anterior segment dysgenesis, other cases described, mainly anterior segment disordersCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Anterior segment mesenchymal dysgenesis; Cataract 11, multiple types; 107250; 610623
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Rosemann: mutant mice have microphthalmia. Zazo Ceco: four families with anterior segment disorders and/or microphthalmia. Semina one case with anterior segment dysgenesis, other cases described, mainly anterior segment disordersCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Anterior segment mesenchymal dysgenesis, 107250; Cataract 11, multiple types, 610623
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.
PITX3 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory