{"id":"W3182556863","doi":"10.1038/s41436-021-01260-4","title":"Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies","year":2021,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":28,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Center for Molecular Medicine Cologne, University of Cologne; Medizinischen Fakultät, Eberhard Karls Universität Tübingen; Department of Health and Social Care; Ataxia UK; Medical Research Council; Ministerium für Wissenschaft, Forschung und Kunst Baden-Württemberg; Canadian Institutes of Health Research; Higher Education Commission, Pakistan; Eberhard Karls Universität Tübingen; Universität zu Köln; European Commission; Wellcome Trust; Cancer Research UK; University College London; Genome Alberta; Deutsche Forschungsgemeinschaft; Muscular Dystrophy UK; Muscular Dystrophy Association; Genome British Columbia; Ontario Genomics Institute; Genome Canada; Brain Research UK; Great Ormond Street Hospital Charity; National Institute for Health and Care Research; Ontario Genomics","keywords":"Microcephaly; Missense mutation; Genetics; Exome sequencing; Neurodevelopmental disorder; Intellectual disability; Biology; Global developmental delay; In silico; Exome; Disease gene identification; Genetic heterogeneity; Loss function; Mutation; Gene; Phenotype","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001140838,0.0001838421,0.0002538181,0.00009615871,0.00003744783,0.00001649969,0.00009295585,0.00009240061,0.00002045396],"category_scores_gemma":[0.00006039919,0.0001534568,0.00001783975,0.0001646181,0.0001617633,0.000002203346,0.0001720523,0.00009847021,8.791163e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001673865,"about_ca_system_score_gemma":0.0002237952,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003365293,"about_ca_topic_score_gemma":0.0004339519,"domain_scores_codex":[0.998834,0.00003477779,0.0002790947,0.0004559521,0.0001332582,0.0002629115],"domain_scores_gemma":[0.9995161,0.000008474219,0.00006845571,0.0002350228,0.00006864318,0.0001033423],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0002277088,0.0005666527,0.1762961,0.0002235688,0.0001699998,0.01177347,0.001038549,0.0002283517,0.8070987,0.000054892,0.000567819,0.001754208],"study_design_scores_gemma":[0.004937562,0.000762555,0.9619144,0.0003434311,0.000057297,0.007434248,0.001066683,0.0001012789,0.02001043,0.0000914656,0.002809585,0.0004710221],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9883,0.01083874,0.00004603003,0.0003642774,0.00008842497,0.0001940908,0.00002344729,0.000004087668,0.0001409283],"genre_scores_gemma":[0.9950889,0.001788651,0.002139058,0.0005411833,0.00007098725,0.00002345711,0.0001514287,0.00002526805,0.0001710615],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7870883,"threshold_uncertainty_score":0.6257785,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01720554532633467,"score_gpt":0.2479926368056939,"score_spread":0.2307870914793593,"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."}}