Activity
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| Skeletal dysplasia v1.233 | MASP1 |
Eleanor Williams commented on gene: MASP1: Associated with 3MC syndrome 1 #257920 (AR) in OMIM. Post natal growth retardation and radioulnar synostosis as well as craniosynostosis are listed as clinical features. 6 families and 5 variants in MASP1 reported in OMIM. COLEC11 associated with 3MC syndrome 2 is already green on the panel. |
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| Skeletal dysplasia v1.153 | COLEC11 |
Eleanor Williams Added phenotypes 3MC syndrome 2 265050 for gene: COLEC11 Publications for gene COLEC11 were changed from 21258343; 8933348; 2569826 to 21258343; 2569826; 8933348; 28301481 |
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| Skeletal dysplasia v1.147 | COLEC11 | Tracy Lester reviewed gene: COLEC11: Rating: GREEN; Mode of pathogenicity: ; Publications: 21258343, 28301481, 8933348, 2569826; Phenotypes: 3MC syndrome 2 265050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | COLEC11 | Eleanor Williams reviewed gene: COLEC11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | COLEC11 |
Eleanor Williams Source NHS GMS was added to COLEC11. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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