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| Cataract v0.291 | ADAMTS17 | Zornitza Stark Marked gene: ADAMTS17 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.291 | ADAMTS17 | Zornitza Stark Gene: adamts17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.291 | ADAMTS17 | Zornitza Stark Classified gene: ADAMTS17 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.291 | ADAMTS17 | Zornitza Stark Gene: adamts17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.290 | ADAMTS17 |
Zornitza Stark gene: ADAMTS17 was added gene: ADAMTS17 was added to Cataract. Sources: Expert Review Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS17 were set to 19836009; 22486325; 24940034 Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani 4 syndrome, recessive, MIM# 613195 Review for gene: ADAMTS17 was set to GREEN Added comment: Weill-Marchesani syndrome is a rare connective tissue disorder characterized by microspherophakia, severe myopia, acute and/or chronic glaucoma, and cataract. Other features include brachydactyly and short stature. Patients may also have stiff joints and thickened skin, especially on the hands. Occasionally, cardiac defects or an abnormal heart rhythm is present. At least 3 unrelated families reported. Sources: Expert Review |
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