| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.574 | NOD2 | Zornitza Stark Marked gene: NOD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.574 | NOD2 | Zornitza Stark Gene: nod2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.574 | NOD2 | Zornitza Stark Classified gene: NOD2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.574 | NOD2 | Zornitza Stark Gene: nod2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.573 | NOD2 |
Zornitza Stark gene: NOD2 was added gene: NOD2 was added to Cataract. Sources: Literature Mode of inheritance for gene: NOD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NOD2 were set to 38180755 Phenotypes for gene: NOD2 were set to Blau syndrome, MIM# 186580 Review for gene: NOD2 was set to GREEN Added comment: PMID 38180755 reports 13 individuals from 3 unrelated families (plus 8 sporadic cases) with Blau syndrome caused by heterozygous gain‑of‑function NOD2 variants; 8 patients required cataract surgery. Sources: Literature |
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