biostudies-literatureUnknownBroeren ENICHD NIH HHSNHGRI NIH HHSNIH HHS<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 wemedRxiv : the preprint server for health sciences2024.11.19.24317561https://www.ebi.ac.uk/biostudies/studies/S-EPMC11601709biostudies-literatureThe ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.PMC11601709R35 HG011297RM1 HG010860R24 OD011883U24 HG009650U01 HG011744U24 HD104591U24 HG009649U24 HG006834Chopra MMurray SHuang JElnagheeb MWayburn BThrush DGitau VBowen BMStark ZJamuar STaylor JHughes MSchmidt SMoosa SPalus BPatel MTshering KKoh ALBalzotti MChong JLemire GMalhotra AHa TAssis BDRRLassiter RStrom SAjuyah PByrne ASchlachetzki ZMilewski BBuchanan ARajkumar RRaymond FLClause AThaxton CBrown MPBluske KChandrasekhar AHamosh AWebb RLim JYCoffey AJMcCurry HOwens EToro SGoel HKam SBerg JGirod AVasilevsky NBurns NJO'Donnell-Luria AChawla ADiStefano MLeigh SPalmer ESajan SBroeren EKesari ABurns BDiTroia SGolden-Grant KRatliff JfalseThe ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.<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 we2024-01-01T00:00:00Z2024 Nov2025-04-06T22:08:40.891Z2025-04-03T23:55:47.531ZS-EPMC116017093960638010.1101/2024.11.19.24317561