{"id":"W4304116001","doi":"10.1016/j.gim.2022.08.020","title":"De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder","year":2022,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Ubiquitin and proteasome pathways","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta Hospital; University of Alberta; Hospital for Sick Children","funders":"National Human Genome Research Institute; National Heart, Lung, and Blood Institute; Center for Mendelian Genomics, University of Washington; Vlaamse regering; National Institutes of Health; Vlaams Instituut voor Biotechnologie; Fonds Wetenschappelijk Onderzoek; KU Leuven; University of Washington","keywords":"Missense mutation; Intellectual disability; Autism spectrum disorder; Ubiquitin ligase; Autism; Signal transducing adaptor protein; Epilepsy; Ubiquitin; Neurodevelopmental disorder; Global developmental delay; Dendritic spine; Genetics; Medicine; Biology; Neuroscience; Psychiatry; Mutation; Receptor; Phenotype; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002581656,0.002245098,0.0004555247,0.001684031,0.0008488221,0.0005827106,0.00067353,0.002026832,0.003006252],"category_scores_gemma":[0.001452419,0.0003158181,0.0005421196,0.0009072134,0.0009196833,0.0003786052,0.000983827,0.0005943012,0.0006774105],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006732522,"about_ca_system_score_gemma":0.0004529821,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002087277,"about_ca_topic_score_gemma":0.003853095,"domain_scores_codex":[0.9995541,0.00005271832,0.00005999254,0.00009625036,0.0001644687,0.00007256239],"domain_scores_gemma":[0.9991558,0.0002429772,0.0002462975,0.00003911958,0.00008101323,0.0002348854],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0008246541,0.0002632854,0.0581047,0.0001196555,0.0003141826,0.7370483,0.0005589817,0.001033583,0.1842054,0.002662729,0.002712378,0.01215221],"study_design_scores_gemma":[0.0002005475,0.0003819885,0.1893922,0.00007136154,0.0002951111,0.7660097,0.0004912977,0.002847063,0.03090054,0.002224931,0.007096568,0.0000888058],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.989924,0.0007209225,0.002102221,0.0008841984,0.0001763192,0.00005843637,0.0006515757,0.0002324561,0.005249836],"genre_scores_gemma":[0.9975747,0.0001073677,0.0009052895,0.0002047382,0.00006774924,0.000007806651,0.0001793678,0.00003570556,0.0009172724],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003006252,"threshold_uncertainty_score":0.01005691,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01734123941466797,"score_gpt":0.2562761816715681,"score_spread":0.2389349422569002,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}