Structural eye disease
Gene: VSX1
DB Mintz-Hittner: one large family with anterior segment anomalies; Matias-Perez one family with anterior segment dysgenesis and microphthalmiaCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Corneal dystrophy, posterior polymorphous, 1; Keratoconus 1; Craniofacial anomalies and anterior segment dysgenesis syndrome; 122000; 148300; 614195
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Mintz-Hittner: one large family with anterior segment anomalies; Matias-Perez one family with anterior segment dysgenesis and microphthalmiaCreated: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Corneal dystrophy, posterior polymorphous, 1; Keratoconus 1; Craniofacial anomalies and anterior segment dysgenesis syndrome; 122000; 148300; 614195
Publications
Variants in this GENE are reported as part of current diagnostic practice
gene: VSX1 was added gene: VSX1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: VSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VSX1 were set to 15051220 Phenotypes for gene: VSX1 were set to Keratoconus 1, 148300; Corneal dystrophy, posterior polymorphous, 1, 122000; Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195