Activity
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5 actions
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| Syndromic Retinopathy v0.216 | MAN2B1 | Zornitza Stark Marked gene: MAN2B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.216 | MAN2B1 | Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.216 | MAN2B1 | Zornitza Stark Classified gene: MAN2B1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.216 | MAN2B1 | Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.215 | MAN2B1 |
Zornitza Stark gene: MAN2B1 was added gene: MAN2B1 was added to Syndromic Retinopathy. Sources: Expert list Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2B1 were set to 29859105 Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, MIM# 248500 Review for gene: MAN2B1 was set to GREEN Added comment: Retinal dystrophy can be a feature of the systemic alpha-mannosidosis phenotype, and can rarely be the presenting feature in apparent non-syndromic retinal dystrophy Sources: Expert list |
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