Activity
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4 actions
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| Prepair 1000+ v1.142 | MFRP | Zornitza Stark Marked gene: MFRP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.142 | MFRP | Zornitza Stark Added comment: Comment when marking as ready: Promote to Green for V2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.142 | MFRP | Zornitza Stark Gene: mfrp has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.142 | MFRP |
Zornitza Stark gene: MFRP was added gene: MFRP was added to Prepair 1000+. Sources: Expert Review Mode of inheritance for gene: MFRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MFRP were set to 17167404; 18554571; 20361016 Phenotypes for gene: MFRP were set to Microphthalmia, isolated 5, MIM# 611040 Review for gene: MFRP was set to GREEN Added comment: More than 10 unrelated families reported with bi-allelic variants in this gene associated with posterior microphthalmia with retinitis pigmentosa, foveoschisis, and optic disc drusen. Causes congenital visual impairment. Sources: Expert Review |
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