| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.624 | VCAN | Zornitza Stark Marked gene: VCAN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.624 | VCAN | Zornitza Stark Gene: vcan has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.624 | VCAN | Zornitza Stark Classified gene: VCAN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.624 | VCAN | Zornitza Stark Gene: vcan has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.623 | VCAN |
Zornitza Stark gene: VCAN was added gene: VCAN was added to Cataract. Sources: Literature Mode of inheritance for gene: VCAN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VCAN were set to 36333947; 29071374 Phenotypes for gene: VCAN were set to Wagner syndrome 1, MIM# 143200 Review for gene: VCAN was set to AMBER Added comment: PMID 29071374 reports 28 individuals from 1 family with heterozygous splice‑acceptor c.4004-1G>A variant presenting with Wagner syndrome (vitreoretinopathy, cataract, retinal detachment). PMID 36333947 reports 4 individuals from 1 family with heterozygous splice‑site indel c.4004-4_c.4004-3delinsCA variant presenting with Wagner vitreoretinopathy (cataract, vitreous syneresis, retinal detachment). Sources: Literature |
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