| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.553 | COL4A5 | Zornitza Stark Marked gene: COL4A5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.553 | COL4A5 | Zornitza Stark Gene: col4a5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.553 | COL4A5 | Zornitza Stark Classified gene: COL4A5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.553 | COL4A5 | Zornitza Stark Gene: col4a5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.552 | COL4A5 |
Zornitza Stark gene: COL4A5 was added gene: COL4A5 was added to Cataract. Sources: Literature Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: COL4A5 were set to 37162688; 33015404; 32883240 Phenotypes for gene: COL4A5 were set to Alport syndrome 1, X-linked, MIM# 301050 Review for gene: COL4A5 was set to GREEN Added comment: PMIDs 32883240, 33015404 and 37162688 report three unrelated families with X‑linked Alport syndrome presenting with cataract (often with anterior lenticonus and other ocular anomalies). Cataract is part of the ocular abnormalities observed in Alport syndrome. Sources: Literature |
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