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Cone-rod Dystrophy v0.11 | VSX2 | Zornitza Stark Marked gene: VSX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cone-rod Dystrophy v0.11 | VSX2 | Zornitza Stark Gene: vsx2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cone-rod Dystrophy v0.11 | VSX2 |
Bryony Thompson gene: VSX2 was added gene: VSX2 was added to Cone-rod Dystrophy. Sources: Expert list Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VSX2 were set to 24001013 Phenotypes for gene: VSX2 were set to smooth irides; lens subluxation; cone-rod dysfunction; high myopia Review for gene: VSX2 was set to RED Added comment: Single consanguineous case reported with cone-rod dysfunction as a feature of a retinal phenotype. Sources: Expert list |