Activity
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3 actions
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| Limb disorders v6.3 | COL5A1 | Eleanor Williams commented on gene: COL5A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v6.3 | COL5A1 | Eleanor Williams Tag curated_removed tag was added to gene: COL5A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v6.2 | COL5A1 |
Tracy Lester gene: COL5A1 was added gene: COL5A1 was added to Limb disorders. Sources: NHS GMS Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL5A1 were set to 21611149; 20847697 Phenotypes for gene: COL5A1 were set to EDS Penetrance for gene: COL5A1 were set to Complete Review for gene: COL5A1 was set to GREEN Added comment: I am not sure if the right panel to add this gene but it should be included in R27 due to severe EDS presenting in childhood - this also applies to COL5A2. We have reported a possible fetal case of EDS with multiple joint flexions on scan and a nonsense variant in COL5A1 Sources: NHS GMS |
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