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| Structural eye disease v0.76 | ADAMTS17 | Nicola Ragge reviewed gene: ADAMTS17: Rating: GREEN; Mode of pathogenicity: ; Publications: 19836009; Phenotypes: Weill-Marchesani-like syndrome- lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature, but no brachydactyly (AR); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | ADAMTS17 | Ivone Leong reviewed gene: ADAMTS17: Rating: GREEN; Mode of pathogenicity: ; Publications: 19836009; Phenotypes: Weill-Marchesani-like syndrome- lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature, but no brachydactyly (AR); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | ADAMTS17 |
Ivone Leong Source NHS GMS was added to ADAMTS17. Added phenotypes Weill-Marchesani-like syndrome- lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature, but no brachydactyly (AR) for gene: ADAMTS17 Publications for gene ADAMTS17 were changed from 6506; 19836009; 2268 to 19836009 |
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| Structural eye disease v0.2 | ADAMTS17 |
Ellen McDonagh gene: ADAMTS17 was added gene: ADAMTS17 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS17 were set to 6506; 19836009; 2268 Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani-like syndrome- lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature, but no brachydactyly (AR) |
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