| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.236 | EPG5 | Zornitza Stark Marked gene: EPG5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.236 | EPG5 | Zornitza Stark Gene: epg5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.236 | EPG5 | Zornitza Stark Classified gene: EPG5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.236 | EPG5 | Zornitza Stark Gene: epg5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.235 | EPG5 |
Zornitza Stark gene: EPG5 was added gene: EPG5 was added to Cataract. Sources: Expert Review Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPG5 were set to 23222957; 26917586 Phenotypes for gene: EPG5 were set to Vici syndrome, MIM# 242840 Review for gene: EPG5 was set to GREEN Added comment: Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum (ACC), cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy. Well established gene disease association, over 50 families reported. Sources: Expert Review |
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