{"id":7255,"date":"2024-02-08T21:14:58","date_gmt":"2024-02-08T21:14:58","guid":{"rendered":"https:\/\/neuropediatoolkit.org\/?p=7255"},"modified":"2026-09-04T03:48:21","modified_gmt":"2026-09-04T03:48:21","slug":"criterios-de-patogenicidad-de-la-acmg","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/zh\/criterios-de-patogenicidad-de-la-acmg\/","title":{"rendered":"ACMG \u81f4\u75c5\u6027\u6807\u51c6\u3002"},"content":{"rendered":"<h2>ACMG\uff08\u7f8e\u56fd\u533b\u5b66\u9057\u4f20\u5b66\u4e0e\u57fa\u56e0\u7ec4\u5b66\u5b66\u9662\uff09\u7684\u81f4\u75c5\u6027\u6807\u51c6<\/h2>\n<p>ACMG \u548c AMP\uff08\u5206\u5b50\u75c5\u7406\u5b66\u534f\u4f1a\uff09\u5236\u5b9a\u7684\u6807\u51c6\u6307\u5bfc\u5206\u5b50\u7814\u7a76\u4e2d\u53d1\u73b0\u7684\u9057\u4f20\u53d8\u5f02\u7684\u5206\u7c7b\u548c\u4e34\u5e8a\u89e3\u91ca\u3002\u8fd9\u4e9b\u6807\u51c6\u5bf9\u4e8e\u786e\u4fdd\u6cbb\u7597\u548c\u540e\u7eed\u51b3\u7b56\u57fa\u4e8e\u786e\u51ff\u7684\u8bc1\u636e\u81f3\u5173\u91cd\u8981\u3002<\/p>\n<ul>\n<li><strong>\u81f4\u75c5\u6027\uff1a<\/strong> \u538b\u5012\u6027\u7684\u79d1\u5b66\u8bc1\u636e\u8868\u660e\u8be5\u53d8\u5f02\u5bfc\u81f4\u4e86\u8fd9\u79cd\u75be\u75c5\u3002\u5f53\u53d8\u5f02\u4e0e\u4e34\u5e8a\u73b0\u8c61\u4e4b\u95f4\u5b58\u5728\u76f4\u63a5\u4e14\u56e0\u679c\u5173\u7cfb\u65f6\uff0c\u9002\u7528\u8be5\u6807\u51c6\u3002<\/li>\n<li><strong>\u53ef\u80fd\u81f4\u75c5\uff1a<\/strong> \u8be5\u53d8\u5f02\u5177\u6709\u56e0\u679c\u5173\u7cfb\u7684\u53ef\u80fd\u6027\u5f88\u9ad8\uff08&gt;90%\uff09\u3002\u5728\u8fd9\u79cd\u60c5\u51b5\u4e0b\uff0c\u867d\u7136\u6ca1\u6709\u538b\u5012\u6027\u7684\u8bc1\u636e\uff0c\u4f46\u7814\u7a76\u7ed3\u679c\u4e0e\u81f4\u75c5\u5173\u7cfb\u4e00\u81f4\uff0c\u5e76\u4e14\u8be5\u53d8\u5f02\u88ab\u8ba4\u4e3a\u5f88\u53ef\u80fd\u5bfc\u81f4\u8be5\u75be\u75c5\u3002<\/li>\n<li><strong>\u610f\u4e49\u4e0d\u786e\u5b9a\u7684\u53d8\u4f53 (VUS\/VSI)\uff1a<\/strong> \u6ca1\u6709\u8db3\u591f\u7684\u8bc1\u636e\u5c06\u5176\u5206\u7c7b\u4e3a\u826f\u6027\u6216\u81f4\u75c5\u6027\u3002\u5f53\u7ed3\u679c\u4e0d\u660e\u786e\u6216\u65e0\u6cd5\u786e\u5b9a\u89e3\u91ca\u65f6\uff0c\u8be5\u53d8\u5f02\u88ab\u5206\u7c7b\u4e3a VUS\/VSI\u3002<\/li>\n<li><strong>\u53ef\u80fd\u662f\u826f\u6027\u7684\uff1a<\/strong> \u8be5\u53d8\u5f02\u5f88\u53ef\u80fd\u4e0e\u75be\u75c5\u65e0\u5173\u3002\u5c3d\u7ba1\u6709\u8bc1\u636e\u8868\u660e\u53ef\u80fd\u5b58\u5728\u5173\u7cfb\uff0c\u4f46\u8fd9\u79cd\u53ef\u80fd\u6027\u8f83\u5c0f\uff0c\u9700\u8981\u8fdb\u4e00\u6b65\u7814\u7a76\u4ee5\u786e\u8ba4\u5176\u81f4\u75c5\u6027\u3002<\/li>\n<li><strong>\u826f\u6027\uff1a<\/strong> \u6709\u8bc1\u636e\u8868\u660e\u8be5\u53d8\u5f02\u662f\u4e00\u79cd\u5e38\u89c1\u7684\u591a\u6001\u6027\uff0c\u6ca1\u6709\u81f4\u75c5\u6027\u4e34\u5e8a\u5f71\u54cd\u3002\u5f53\u8be5\u53d8\u5f02\u4e0e\u4efb\u4f55\u75be\u75c5\u65e0\u5173\u5e76\u4e14\u5176\u5728\u57fa\u56e0\u7ec4\u4e2d\u7684\u5b58\u5728\u88ab\u8ba4\u4e3a\u662f\u6b63\u5e38\u7684\u65f6\uff0c\u9002\u7528\u8be5\u6807\u51c6\u3002<\/li>\n<\/ul>\n<p>\u5728\u4e34\u5e8a\u5b9e\u8df5\u4e2d\uff0c\u4f7f\u7528\u8fd9\u4e9b\u6807\u51c6\u6765\u8bc4\u4f30\u5df2\u8bc6\u522b\u7684\u9057\u4f20\u53d8\u5f02\u7684\u76f8\u5173\u6027\u81f3\u5173\u91cd\u8981\u3002\u89e3\u91ca\u5e94\u8be5\u7ed3\u5408\u4e0a\u4e0b\u6587\uff0c\u8003\u8651\u5176\u4ed6\u56e0\u7d20\uff0c\u4f8b\u5982\u5bb6\u65cf\u53f2\u3001\u7814\u7a76\u80cc\u666f\u548c\u5176\u4ed6\u53d1\u73b0\u3002<\/p>","protected":false},"excerpt":{"rendered":"<p>ACMG\uff08\u7f8e\u56fd\u533b\u5b66\u9057\u4f20\u5b66\u548c\u57fa\u56e0\u7ec4\u5b66\u5b66\u9662\uff09\u81f4\u75c5\u6027\u6807\u51c6 ACMG \u548c AMP\uff08\u5206\u5b50\u75c5\u7406\u5b66\u534f\u4f1a\uff09\u5236\u5b9a\u7684\u6807\u51c6\u6307\u5bfc\u5206\u5b50\u7814\u7a76\u4e2d\u786e\u5b9a\u7684\u9057\u4f20\u53d8\u5f02\u7684\u5206\u7c7b\u548c\u4e34\u5e8a\u89e3\u91ca\u3002\u8fd9\u4e9b\u6807\u51c6\u5bf9\u4e8e\u786e\u4fdd\u6cbb\u7597\u548c\u540e\u7eed\u51b3\u7b56\u57fa\u4e8e\u2026\u2026\u81f3\u5173\u91cd\u8981\u3002 <\/p>\n<p class=\"link-more\"><a href=\"https:\/\/neuropediatoolkit.org\/zh\/criterios-de-patogenicidad-de-la-acmg\/\" class=\"more-link\">\u7ee7\u7eed\u9605\u8bfb<span class=\"screen-reader-text\"> \u00abACMG \u81f4\u75c5\u6027\u6807\u51c6\u3002\u00bb<\/span><\/a><\/p>","protected":false},"author":1,"featured_media":7269,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[10],"tags":[],"class_list":["post-7255","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neurogenetica","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/zh\/wp-json\/wp\/v2\/posts\/7255","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/zh\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/zh\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/zh\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/zh\/wp-json\/wp\/v2\/comments?post=7255"}],"version-history":[{"count":6,"href":"https:\/\/neuropediatoolkit.org\/zh\/wp-json\/wp\/v2\/posts\/7255\/revisions"}],"predecessor-version":[{"id":8632,"href":"https:\/\/neuropediatoolkit.org\/zh\/wp-json\/wp\/v2\/posts\/7255\/revisions\/8632"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/zh\/wp-json\/wp\/v2\/media\/7269"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/zh\/wp-json\/wp\/v2\/media?parent=7255"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/zh\/wp-json\/wp\/v2\/categories?post=7255"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/zh\/wp-json\/wp\/v2\/tags?post=7255"}],"curies":[{"name":"\u53ef\u6e7f\u6027\u7c89\u5242","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}