| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v0.11755 | ADAMTS10 | Zornitza Stark Publications for gene: ADAMTS10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11754 | ADAMTS10 |
Zornitza Stark changed review comment from: Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects Sources: Expert list; to: Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects. Multiple families reported. Sources: Expert list |
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| Mendeliome v0.11754 | ADAMTS10 | Zornitza Stark edited their review of gene: ADAMTS10: Changed publications: 15368195, 18567016, 19836009 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11754 | ADAMTS10 |
Zornitza Stark changed review comment from: Mild intellectual disability is described in around 10% of affected individuals. Sources: Expert list; to: Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects Sources: Expert list |
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| Mendeliome v0.11729 | ADAMTS10 | Elena Savva Phenotypes for gene: ADAMTS10 were changed from Weill-Marchesani syndrome 1, recessive, MIM#277600 to Weill-Marchesani syndrome 1, recessive, MIM#277600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11728 | ADAMTS10 | Elena Savva Phenotypes for gene: ADAMTS10 were changed from to Weill-Marchesani syndrome 1, recessive, MIM#277600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11727 | ADAMTS10 | Elena Savva Marked gene: ADAMTS10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11727 | ADAMTS10 | Elena Savva Gene: adamts10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11727 | ADAMTS10 | Elena Savva Mode of inheritance for gene: ADAMTS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | ADAMTS10 |
Zornitza Stark gene: ADAMTS10 was added gene: ADAMTS10 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ADAMTS10 was set to Unknown |
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