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| Corneal Dystrophy v1.5 | VSX1 | Zornitza Stark changed review comment from: Keratoconus is a corneal dystrophy.; to: Keratoconus is a corneal dystrophy. Some of the variants reported have a high population frequency, more consistent with a risk allele rather than a Mendelian gene-disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal Dystrophy v0.28 | VSX1 | Zornitza Stark Phenotypes for gene: VSX1 were changed from to Keratoconus 1, MIM# 148300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal Dystrophy v0.26 | VSX1 | Zornitza Stark reviewed gene: VSX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Keratoconus 1, MIM# 148300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal Dystrophy v0.16 | KERA | Zornitza Stark Marked gene: KERA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal Dystrophy v0.16 | KERA | Zornitza Stark Gene: kera has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal Dystrophy v0.16 | KERA | Zornitza Stark Classified gene: KERA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal Dystrophy v0.16 | KERA | Zornitza Stark Gene: kera has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal Dystrophy v0.15 | KERA |
Zornitza Stark gene: KERA was added gene: KERA was added to Corneal Dystrophy. Sources: Expert list Mode of inheritance for gene: KERA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KERA were set to 23834557; 11726611; 10802664 Phenotypes for gene: KERA were set to Cornea plana 2, autosomal recessive, MIM# 217300 Review for gene: KERA was set to GREEN Added comment: Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. CNA2 is a severe form of the disorder, which is frequently associated with additional ocular manifestations. Sources: Expert list |
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