Structural eye disease
Gene: FOXD3
DB Kloss et al. 2012: Five families with anterior segment disorders. Reported variants are missenseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
aniridia; Peters anomaly; Anterior segment dysgenesis
Publications
Mode of pathogenicity
Other - please provide details in the comments
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Kloss et al. 2012: Five families with anterior segment disorders. Reported variants are missenseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
aniridia; Peters anomaly; Anterior segment dysgenesis
Publications
Mode of pathogenicity
Other - please provide details in the comments
Source NHS GMS was added to FOXD3. Mode of pathogenicity for gene FOXD3 was changed from to Other - please provide details in the comments Added phenotypes Anterior segment dysgenesis; Peters anomaly; aniridia for gene: FOXD3
gene: FOXD3 was added gene: FOXD3 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: FOXD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXD3 were set to 22815627 Phenotypes for gene: FOXD3 were set to aniridia; Peters anomaly; Anterior segment dysgenesis