{"id":1023,"date":"2017-08-28T18:29:58","date_gmt":"2017-08-28T18:29:58","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1023"},"modified":"2026-02-24T21:00:43","modified_gmt":"2026-02-24T21:00:43","slug":"genetic-severity-score-predicts-clinical-phenotype-in-nf2","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\/","title":{"rendered":"Genetic Severity Score predicts clinical phenotype in NF2 (Contributed by Dorothy Halliday)"},"content":{"rendered":"

Individuals affected with Neurofibromatosis type 2 (NF2) typically develop multiple brain and spine tumours, and often lose hearing in young adulthood. The disease course can vary amongst patients and their severity is linked to genetic variations. The NF2 genetic severity score presented here, groups patients using genetic test results. The score separated patients according to 10 different outcomes, including age at diagnosis and number of interventions. This score will allow genetic information to be routinely incorporated in studies delineating the natural history of NF2, and in future studies assessing NF2 treatment response. (http:\/\/jmg.bmj.com\/content\/early\/2017\/08\/28\/jmedgenet-2017-104519<\/a> )<\/p>\n

\u00a0<\/em>\"\"<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

Individuals affected with Neurofibromatosis type 2 (NF2) typically develop multiple brain and spine tumours, and often lose hearing in young adulthood. The disease course can vary amongst patients and their severity is linked to genetic variations. The NF2 genetic severity score presented here, groups patients using genetic test results. The score separated patients according to […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1023","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nGenetic Severity Score predicts clinical phenotype in NF2 (Contributed by Dorothy Halliday) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Genetic Severity Score predicts clinical phenotype in NF2 (Contributed by Dorothy Halliday) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Individuals affected with Neurofibromatosis type 2 (NF2) typically develop multiple brain and spine tumours, and often lose hearing in young adulthood. The disease course can vary amongst patients and their severity is linked to genetic variations. The NF2 genetic severity score presented here, groups patients using genetic test results. The score separated patients according to [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2017-08-28T18:29:58+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T21:00:43+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/08\/Genenetic-Severity-J-Med-Genet-Blog-v3.png\" \/>\n\t<meta property=\"og:image:width\" content=\"724\" \/>\n\t<meta property=\"og:image:height\" content=\"360\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/28\\\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/28\\\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Genetic Severity Score predicts clinical phenotype in NF2 (Contributed by Dorothy Halliday)\",\"datePublished\":\"2017-08-28T18:29:58+00:00\",\"dateModified\":\"2026-02-24T21:00:43+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/28\\\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\\\/\"},\"wordCount\":110,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/28\\\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/08\\\/Genenetic-Severity-J-Med-Genet-Blog-v3-300x149.png\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/28\\\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/28\\\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/28\\\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\\\/\",\"name\":\"Genetic Severity Score predicts clinical phenotype in NF2 (Contributed by Dorothy Halliday) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/28\\\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\\\/#primaryimage\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/28\\\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/08\\\/Genenetic-Severity-J-Med-Genet-Blog-v3-300x149.png\",\"datePublished\":\"2017-08-28T18:29:58+00:00\",\"dateModified\":\"2026-02-24T21:00:43+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/28\\\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/28\\\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\\\/\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/28\\\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\\\/#primaryimage\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/08\\\/Genenetic-Severity-J-Med-Genet-Blog-v3.png\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/08\\\/Genenetic-Severity-J-Med-Genet-Blog-v3.png\",\"width\":724,\"height\":360},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/28\\\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Genetic Severity Score predicts clinical phenotype in NF2 (Contributed by Dorothy Halliday)\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"name\":\"JMG Contact blog\",\"description\":\"JMG Contact blog\",\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\",\"name\":\"JMG Contact blog\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"width\":300,\"height\":34,\"caption\":\"JMG Contact blog\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\"}},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\",\"name\":\"hqqu\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"contentUrl\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"caption\":\"hqqu\"},\"description\":\"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Genetic Severity Score predicts clinical phenotype in NF2 (Contributed by Dorothy Halliday) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\/","og_locale":"en_US","og_type":"article","og_title":"Genetic Severity Score predicts clinical phenotype in NF2 (Contributed by Dorothy Halliday) - JMG Contact blog","og_description":"Individuals affected with Neurofibromatosis type 2 (NF2) typically develop multiple brain and spine tumours, and often lose hearing in young adulthood. The disease course can vary amongst patients and their severity is linked to genetic variations. The NF2 genetic severity score presented here, groups patients using genetic test results. The score separated patients according to [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\/","og_site_name":"JMG Contact blog","article_published_time":"2017-08-28T18:29:58+00:00","article_modified_time":"2026-02-24T21:00:43+00:00","og_image":[{"width":724,"height":360,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/08\/Genenetic-Severity-J-Med-Genet-Blog-v3.png","type":"image\/png"}],"author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Genetic Severity Score predicts clinical phenotype in NF2 (Contributed by Dorothy Halliday)","datePublished":"2017-08-28T18:29:58+00:00","dateModified":"2026-02-24T21:00:43+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\/"},"wordCount":110,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/08\/Genenetic-Severity-J-Med-Genet-Blog-v3-300x149.png","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\/","url":"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\/","name":"Genetic Severity Score predicts clinical phenotype in NF2 (Contributed by Dorothy Halliday) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"primaryImageOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\/#primaryimage"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/08\/Genenetic-Severity-J-Med-Genet-Blog-v3-300x149.png","datePublished":"2017-08-28T18:29:58+00:00","dateModified":"2026-02-24T21:00:43+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\/"]}]},{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\/#primaryimage","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/08\/Genenetic-Severity-J-Med-Genet-Blog-v3.png","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/08\/Genenetic-Severity-J-Med-Genet-Blog-v3.png","width":724,"height":360},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/genetic-severity-score-predicts-clinical-phenotype-in-nf2\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"Genetic Severity Score predicts clinical phenotype in NF2 (Contributed by Dorothy Halliday)"}]},{"@type":"WebSite","@id":"https:\/\/blogs.bmj.com\/jmg\/#website","url":"https:\/\/blogs.bmj.com\/jmg\/","name":"JMG Contact blog","description":"JMG Contact blog","publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/blogs.bmj.com\/jmg\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Organization","@id":"https:\/\/blogs.bmj.com\/jmg\/#organization","name":"JMG Contact blog","url":"https:\/\/blogs.bmj.com\/jmg\/","logo":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","width":300,"height":34,"caption":"JMG Contact blog"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/"}},{"@type":"Person","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b","name":"hqqu","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","caption":"hqqu"},"description":"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.","sameAs":["https:\/\/x.com\/HuiQiQu"],"url":"https:\/\/blogs.bmj.com\/jmg\/author\/hqiqu\/"}]}},"_links":{"self":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1023","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/123"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=1023"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1023\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=1023"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=1023"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=1023"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}