{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001792914,0.000938881,0.0003217511,0.001126653,0.0006598752,0.0002614407,0.0003940266,0.0006124556,0.002482138],"category_scores_gemma":[0.0007182009,0.0002118845,0.0002108857,0.0007871017,0.0005310808,0.0001233127,0.0006076085,0.0004556652,0.0002103411],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003178353,"about_ca_system_score_gemma":0.0004022407,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002645764,"about_ca_topic_score_gemma":0.003891222,"domain_scores_codex":[0.9997099,0.00002878099,0.00002964264,0.00009755052,0.00009498962,0.00003913012],"domain_scores_gemma":[0.9997007,0.00008647611,0.00007863062,0.00001917187,0.000026678,0.00008835848],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.001027181,0.0002295859,0.415662,0.0002122452,0.0004447335,0.184283,0.00117355,0.0007589267,0.3736062,0.00110039,0.0009038947,0.02059829],"study_design_scores_gemma":[0.0001597791,0.0005235072,0.6367962,0.00004164899,0.0002798848,0.3184259,0.0004046718,0.001723711,0.03795724,0.0004379898,0.003202172,0.00004721276],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982754,0.0002152814,0.0008245001,0.00005201441,0.000008113269,0.00002111478,0.0001830139,0.00001847303,0.0004021559],"genre_scores_gemma":[0.9985136,0.00006710277,0.0008397191,0.00004336933,0.00001017314,0.00001013002,0.0001827863,0.000008146625,0.0003250163],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002645764,"threshold_uncertainty_score":0.008303583,"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."}}