{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"submitter":["Broeren E"],"funding":["NICHD NIH HHS","NHGRI NIH HHS","NIH HHS"],"pubmed_abstract":["<h4>Purpose</h4>The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP (SD-GCEP) was formed to address an unmet need.<h4>Methods</h4>The SD-GCEP applied ClinGen's framework to evaluate the clinical validity of genes associated with rare syndromic disorders. 111 Gene-Disease Relationships (GDRs) associated with 100 genes spanning the clinical spectrum of syndromic disorders were curated.<h4>Results</h4>From April 2020 through March 2024, 38 precurations were performed on genes with multiple disease relationships and were reviewed to determine if the disorders were part of a spectrum or distinct entities. 14 genes were lumped into a single disease entity and 24 we"],"journal":["medRxiv : the preprint server for health sciences"],"pagination":["2024.11.19.24317561"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11601709"],"repository":["biostudies-literature"],"pubmed_title":["The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships."],"pmcid":["PMC11601709"],"funding_grant_id":["R35 HG011297","RM1 HG010860","R24 OD011883","U24 HG009650","U01 HG011744","U24 HD104591","U24 HG009649","U24 HG006834"],"pubmed_authors":["Chopra M","Murray S","Huang J","Elnagheeb M","Wayburn B","Thrush D","Gitau V","Bowen BM","Stark Z","Jamuar S","Taylor J","Hughes M","Schmidt S","Moosa S","Palus B","Patel M","Tshering K","Koh AL","Balzotti M","Chong J","Lemire G","Malhotra A","Ha T","Assis BDRR","Lassiter R","Strom S","Ajuyah P","Byrne A","Schlachetzki Z","Milewski B","Buchanan A","Rajkumar R","Raymond FL","Clause A","Thaxton C","Brown MP","Bluske K","Chandrasekhar A","Hamosh A","Webb R","Lim JY","Coffey AJ","McCurry H","Owens E","Toro S","Goel H","Kam S","Berg J","Girod A","Vasilevsky N","Burns NJ","O'Donnell-Luria A","Chawla A","DiStefano M","Leigh S","Palmer E","Sajan S","Broeren E","Kesari A","Burns B","DiTroia S","Golden-Grant K","Ratliff J"],"additional_accession":[]},"is_claimable":false,"name":"The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.","description":"<h4>Purpose</h4>The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP (SD-GCEP) was formed to address an unmet need.<h4>Methods</h4>The SD-GCEP applied ClinGen's framework to evaluate the clinical validity of genes associated with rare syndromic disorders. 111 Gene-Disease Relationships (GDRs) associated with 100 genes spanning the clinical spectrum of syndromic disorders were curated.<h4>Results</h4>From April 2020 through March 2024, 38 precurations were performed on genes with multiple disease relationships and were reviewed to determine if the disorders were part of a spectrum or distinct entities. 14 genes were lumped into a single disease entity and 24 we","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Nov","modification":"2025-04-06T22:08:40.891Z","creation":"2025-04-03T23:55:47.531Z"},"accession":"S-EPMC11601709","cross_references":{"pubmed":["39606380"],"doi":["10.1101/2024.11.19.24317561"]}}