Structural eye disease
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
Source NHS GMS was added to PITX3. Source Expert Review Green was added to PITX3. Mode of inheritance for gene PITX3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Anterior segment mesenchymal dysgenesis, 107250; Cataract 11, multiple types, 610623 for gene: PITX3 Publications for gene PITX3 were changed from to 29405783; 9620774; 20033184 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: PITX3 was added gene: PITX3 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: PITX3 was set to Phenotypes for gene: PITX3 were set to Eye Disorders