| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.593 | TONSL | Zornitza Stark Marked gene: TONSL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.593 | TONSL | Zornitza Stark Gene: tonsl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.593 | TONSL | Zornitza Stark Classified gene: TONSL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.593 | TONSL | Zornitza Stark Gene: tonsl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.592 | TONSL |
Zornitza Stark gene: TONSL was added gene: TONSL was added to Cataract. Sources: Literature Mode of inheritance for gene: TONSL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TONSL were set to 30773277 Phenotypes for gene: TONSL were set to Spondyloepimetaphyseal dysplasia, sponastrime type, MIM# 271510 Review for gene: TONSL was set to GREEN Added comment: PMID 30773277 reports 9 individuals from 8 unrelated families with bi‑allelic TONSL variants causing Sponastrime dysplasia, a skeletal dysplasia characterised by disproportionate short stature, platyspondyly, metaphyseal striations and, in three families, childhood bilateral cataracts. Sources: Literature |
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