| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.580 | PRX | Zornitza Stark Marked gene: PRX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.580 | PRX | Zornitza Stark Gene: prx has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.580 | PRX | Zornitza Stark Classified gene: PRX as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.580 | PRX | Zornitza Stark Gene: prx has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.579 | PRX |
Zornitza Stark gene: PRX was added gene: PRX was added to Cataract. Sources: Literature Mode of inheritance for gene: PRX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRX were set to 41230902; 36161833; 27081207 Phenotypes for gene: PRX were set to Cataract, MONDO:0005129, PRX-related Review for gene: PRX was set to GREEN Added comment: PMIDs 27081207 (3 patients, 1 family), 36161833 (1 patient, 1 family) and 41230902 (7 patients, 4 families) report heterozygous PRX missense and splice‑site variants segregating with autosomal dominant congenital cataract. This association appears distinct from the association with CMT. PMID 41230902 specifically has splice‑region variants in the final intron of PRXb, and suggests GoF or dominant negative mechanism. Sources: Literature |
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