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| Corneal dystrophy v1.5 | VSX1 | Ivone Leong Phenotypes for gene: VSX1 were changed from Keratoconus 1, MIM# 148300 to Keratoconus 1, OMIM:148300, MONDO:0007851 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v1.3 | VSX1 |
Zornitza Stark gene: VSX1 was added gene: VSX1 was added to Corneal dystrophies. Sources: Expert list Mode of inheritance for gene: VSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VSX1 were set to Keratoconus 1, MIM# 148300 Review for gene: VSX1 was set to GREEN gene: VSX1 was marked as current diagnostic Added comment: Keratoconus is a corneal dystrophy. Sources: Expert list |
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| Corneal dystrophy v0.3 | KERA | Morag Shanks reviewed gene: KERA: Rating: GREEN; Mode of pathogenicity: ; Publications: 23834557, 10802664, 11726611; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v0.2 | KERA |
Ivone Leong gene: KERA was added gene: KERA was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green 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 217300 |
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