{"action":"created","issue":{"url":"https://api.github.com/repos/ClinGen/clincoded/issues/1809","repository_url":"https://api.github.com/repos/ClinGen/clincoded","labels_url":"https://api.github.com/repos/ClinGen/clincoded/issues/1809/labels{/name}","comments_url":"https://api.github.com/repos/ClinGen/clincoded/issues/1809/comments","events_url":"https://api.github.com/repos/ClinGen/clincoded/issues/1809/events","html_url":"https://github.com/ClinGen/clincoded/issues/1809","id":370681925,"node_id":"MDU6SXNzdWUzNzA2ODE5MjU=","number":1809,"title":"Enable approving and publishing GDM with more inheritance patterns than currently available","user":{"login":"courtneythaxton","id":32530005,"node_id":"MDQ6VXNlcjMyNTMwMDA1","avatar_url":"https://avatars0.githubusercontent.com/u/32530005?v=4","gravatar_id":"","url":"https://api.github.com/users/courtneythaxton","html_url":"https://github.com/courtneythaxton","followers_url":"https://api.github.com/users/courtneythaxton/followers","following_url":"https://api.github.com/users/courtneythaxton/following{/other_user}","gists_url":"https://api.github.com/users/courtneythaxton/gists{/gist_id}","starred_url":"https://api.github.com/users/courtneythaxton/starred{/owner}{/repo}","subscriptions_url":"https://api.github.com/users/courtneythaxton/subscriptions","organizations_url":"https://api.github.com/users/courtneythaxton/orgs","repos_url":"https://api.github.com/users/courtneythaxton/repos","events_url":"https://api.github.com/users/courtneythaxton/events{/privacy}","received_events_url":"https://api.github.com/users/courtneythaxton/received_events","type":"User","site_admin":false},"labels":[{"id":389858410,"node_id":"MDU6TGFiZWwzODk4NTg0MTA=","url":"https://api.github.com/repos/ClinGen/clincoded/labels/GCI","name":"GCI","color":"1d76db","default":false},{"id":650818089,"node_id":"MDU6TGFiZWw2NTA4MTgwODk=","url":"https://api.github.com/repos/ClinGen/clincoded/labels/dependency","name":"dependency","color":"0e8866","default":false},{"id":641647798,"node_id":"MDU6TGFiZWw2NDE2NDc3OTg=","url":"https://api.github.com/repos/ClinGen/clincoded/labels/external%20colleague","name":"external colleague","color":"c67d3d","default":false},{"id":641654742,"node_id":"MDU6TGFiZWw2NDE2NTQ3NDI=","url":"https://api.github.com/repos/ClinGen/clincoded/labels/requires%20discussion","name":"requires discussion","color":"c827ce","default":false}],"state":"open","locked":false,"assignee":null,"assignees":[],"milestone":null,"comments":16,"created_at":"2018-10-16T15:54:33Z","updated_at":"2018-11-06T19:47:02Z","closed_at":null,"author_association":"NONE","body":"Hi @jimmyzhen @wrightmw @erinriggs @marinadistefano @jennygoldstein\r\n\r\nCurrently the only gene-disease relationships (GDMs) allowed to be approved and published are those that have an inheritance categorized as AD, AR, X-linked. In cases where the gene has \"No genetic evidence\" the mode of inheritance will not necessarily be known, yet the GCI requires an AD, AR, X-linked, as an inheritance of \"unknown\" is not allowed for approval and publication. \r\n\r\n**_Can we come up with a plan to enable publication in these cases, in which the MOI (inheritance) is truly unknown?_** \r\n\r\nFYI, the FAO group needs to publish GDM for an upcoming publication that is being drafted and the currently cannot publish three of them due to this lack of knowing an MOI due to \"no genetic evidence\" of the gene is disease.\r\n\r\nFurthermore, enabling the ability to score on semi dominance (in cases in which both AR and AD dominant inheritance represent a spectrum of disease severity for one disease would also be nice, and would work with the Lumping and splitting guidelines. \r\n\r\nThanks\r\n@courtneythaxton "},"comment":{"url":"https://api.github.com/repos/ClinGen/clincoded/issues/comments/436384372","html_url":"https://github.com/ClinGen/clincoded/issues/1809#issuecomment-436384372","issue_url":"https://api.github.com/repos/ClinGen/clincoded/issues/1809","id":436384372,"node_id":"MDEyOklzc3VlQ29tbWVudDQzNjM4NDM3Mg==","user":{"login":"courtneythaxton","id":32530005,"node_id":"MDQ6VXNlcjMyNTMwMDA1","avatar_url":"https://avatars0.githubusercontent.com/u/32530005?v=4","gravatar_id":"","url":"https://api.github.com/users/courtneythaxton","html_url":"https://github.com/courtneythaxton","followers_url":"https://api.github.com/users/courtneythaxton/followers","following_url":"https://api.github.com/users/courtneythaxton/following{/other_user}","gists_url":"https://api.github.com/users/courtneythaxton/gists{/gist_id}","starred_url":"https://api.github.com/users/courtneythaxton/starred{/owner}{/repo}","subscriptions_url":"https://api.github.com/users/courtneythaxton/subscriptions","organizations_url":"https://api.github.com/users/courtneythaxton/orgs","repos_url":"https://api.github.com/users/courtneythaxton/repos","events_url":"https://api.github.com/users/courtneythaxton/events{/privacy}","received_events_url":"https://api.github.com/users/courtneythaxton/received_events","type":"User","site_admin":false},"created_at":"2018-11-06T19:47:02Z","updated_at":"2018-11-06T19:47:02Z","author_association":"NONE","body":"Done. Thank you all for your quick response to this!\r\n\r\nCourtney\r\n\r\nFrom: ErinRiggs <notifications@github.com<mailto:notifications@github.com>>\r\nReply-To: ClinGen/clincoded <reply@reply.github.com<mailto:reply@reply.github.com>>\r\nDate: Tuesday, November 6, 2018 at 2:41 PM\r\nTo: ClinGen/clincoded <clincoded@noreply.github.com<mailto:clincoded@noreply.github.com>>\r\nCc: Courtney Thaxton <courtney_thaxton@med.unc.edu<mailto:courtney_thaxton@med.unc.edu>>, Mention <mention@noreply.github.com<mailto:mention@noreply.github.com>>\r\nSubject: Re: [ClinGen/clincoded] Enable approving and publishing GDM with more inheritance patterns than currently available (#1809)\r\n\r\n?Ok great. Courtney, since it sounds like Peter's suggestion will work, would you mind just circling back with him on the original GitHub ticket and letting him know that we will go forward with that parent term?\r\n\r\n\r\nThanks!\r\n\r\nErin\r\n\r\n\r\nErin Rooney Riggs, MS, CGC\r\n\r\nAssistant Professor\r\n\r\nCertified Genetic Counselor\r\n\r\nAutism & Developmental Medicine Institute\r\n\r\nGeisinger\r\n\r\neriggs@geisinger.edu<mailto:eriggs@geisinger.edu><mailto:eriggs@geisinger.edu>\r\n\r\n\r\n________________________________\r\nFrom: Scott G <notifications@github.com<mailto:notifications@github.com>>\r\nSent: Tuesday, November 6, 2018 12:56 PM\r\nTo: ClinGen/clincoded\r\nCc: Riggs, Erin; Mention\r\nSubject: [External] Re: [ClinGen/clincoded] Enable approving and publishing GDM with more inheritance patterns than currently available (#1809)\r\n\r\nThe JSON message that is sent to the DX and used on the site is currently a text string like \"Autosomal dominant inheritance (HP:0000006)\". We parse this string and look for the (HP:0000006) to connect the HP term in the database but the report simply prints whatever the text string you send on the report page. As long as a valid HP ID (HP:0000005) we should be good and the text string can be whatever the group want to display.\r\n\r\nDoes this help?\r\n\r\nScott\r\n\r\n\r\n\r\nScott Goehringer\r\nt: 781-453-2960\r\nOn Twitter: @srgoehringer <https://twitter.com/srgoehringer>\r\n\r\n\r\nIMPORTANT WARNING: The information in this message (and the documents attached to it, if any) is confidential and may be legally privileged. It is intended solely for the addressee. Access to this message by anyone else is unauthorized. If you are not the intended recipient, any disclosure, copying, distribution or any action taken, or omitted to be taken, in reliance on it is prohibited and may be unlawful. If you have received this message in error, please delete all electronic copies of this message (and the documents attached to it, if any), destroy any hard copies you may have created and notify me immediately by replying to this email. Thank you.\r\n\r\n> On Nov 6, 2018, at 1:17 PM, tnavatar <notifications@github.com<mailto:notifications@github.com>> wrote:\r\n>\r\n> OK, I think the website will support that without a problem (@sgoehringer <https://github.com/sgoehringer> , please correct me if that's not the case). I think that the website would expect to see HP:0000005 in the case where no mode of inheritance is specified, and whatever term gets created to describe semi-dominant in the other case.\r\n>\r\n> -\r\n> You are receiving this because you were mentioned.\r\n> Reply to this email directly, view it on GitHub <https://github.com/ClinGen/clincoded/issues/1809#issuecomment-436354326>, or mute the thread <https://github.com/notifications/unsubscribe-auth/ABEM25kTnU6TggLzqE4v2ex83OXNtaWMks5usdJTgaJpZM4Xeq90>.\r\n>\r\n\r\n\r\n-\r\nYou are receiving this because you were mentioned.\r\nReply to this email directly, view it on GitHub<https://na01.safelinks.protection.outlook.com/?url=https%3A%2F%2Fgithub.com%2FClinGen%2Fclincoded%2Fissues%2F1809%23issuecomment-436367516&data=02%7C01%7Ceriggs%40geisinger.edu%7Cd26a7841bb824e14c89b08d644199024%7C37d46c567c664402a16055c2313b910d%7C0%7C0%7C636771273921960465&sdata=Ucw1Y1k2VcP%2FwYSnlCMAB6TQl6Noygtcb%2F0gq4OlSN8%3D&reserved=0>, or mute the thread<https://na01.safelinks.protection.outlook.com/?url=https%3A%2F%2Fgithub.com%2Fnotifications%2Funsubscribe-auth%2FAcqZlOYvdmWTnSJ7MGdc_27jjWeq-EUwks5usdtcgaJpZM4Xeq90&data=02%7C01%7Ceriggs%40geisinger.edu%7Cd26a7841bb824e14c89b08d644199024%7C37d46c567c664402a16055c2313b910d%7C0%7C0%7C636771273921960465&sdata=EyKSaAEqC%2F%2FeiCY8SVGAjtp1X5ZwTdm%2B34KA%2BKiOTEM%3D&reserved=0>.\r\n\r\n—\r\nYou are receiving this because you were mentioned.\r\nReply to this email directly, view it on GitHub<https://github.com/ClinGen/clincoded/issues/1809#issuecomment-436382551>, or mute the thread<https://github.com/notifications/unsubscribe-auth/AfBeVTPPzA4OW-p8PHEq67m_rmZGnlJUks5useXjgaJpZM4Xeq90>.\r\n"}}
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