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| Mendeliome v1.2925 | MMD2 | Zornitza Stark Marked gene: MMD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2925 | MMD2 | Zornitza Stark Gene: mmd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2925 | MMD2 | Zornitza Stark Classified gene: MMD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2925 | MMD2 | Zornitza Stark Gene: mmd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2924 | MMD2 |
Zornitza Stark gene: MMD2 was added gene: MMD2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MMD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MMD2 were set to 40663042 Phenotypes for gene: MMD2 were set to Periodontitis, MONDO:0005076, MMD2-related Review for gene: MMD2 was set to AMBER Added comment: Two multigenerational families with aggressive periodontitis segregating missense variants, plus supportive functional data. Abnormalities in the proteins of Golgi apparatus, a crucial contributor to innate immune signaling pathways, were identified in patients' neutrophils. The knock-in and knockout mice exhibited alveolar bone loss by ligature-induced periodontitis, along with impaired fMLP-induced chemotaxis, as found in the patients with MMD2 variants. Sources: Literature |
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