{"id":"W4377695807","doi":"10.1016/j.clim.2023.109546","title":"Dominant Negative Variants in IKZF2 Cause ICHAD Syndrome, a New Disorder Characterized by Immunodysregulation, Craniofacial Anomalies, Hearing Impairment, Athelia, and Developmental Delay","year":2023,"lang":"en","type":"article","venue":"Clinical Immunology","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia Hospital; University of British Columbia","funders":"","keywords":"Proband; Biology; Craniofacial; Genetics; Missense mutation; Loss function; Zinc finger; Hearing loss; Transcription factor; Mutation; Phenotype; Gene; Medicine","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":[0.0001497716,0.002307903,0.0005570307,0.001374331,0.0004654918,0.0003761628,0.0005506158,0.000736472,0.002450327],"category_scores_gemma":[0.000754991,0.000284117,0.0003616383,0.000924938,0.0008130594,0.0002384414,0.0005079706,0.0006083255,0.0004398031],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003225281,"about_ca_system_score_gemma":0.0002645747,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001086613,"about_ca_topic_score_gemma":0.001996923,"domain_scores_codex":[0.9997497,0.00002771199,0.00002723728,0.00006524893,0.00009420968,0.00003587854],"domain_scores_gemma":[0.9995558,0.0001531524,0.0001173432,0.00002542849,0.00002881489,0.0001193794],"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":[0.001190011,0.0001423045,0.06933019,0.0002011397,0.0002395971,0.5025437,0.0009606344,0.0005208782,0.4014437,0.002774166,0.001594966,0.01905855],"study_design_scores_gemma":[0.0002563833,0.0003970575,0.2115664,0.00007214148,0.0003940769,0.717582,0.0006360749,0.001683933,0.05849572,0.002130636,0.006713535,0.00007213164],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9904796,0.0008159736,0.003335166,0.0002555242,0.00005576322,0.00003918115,0.0006948955,0.0001834095,0.004140455],"genre_scores_gemma":[0.9970464,0.0001909063,0.001591699,0.00005899061,0.00004467724,0.00001111019,0.0002165879,0.00002699031,0.0008126025],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002450327,"threshold_uncertainty_score":0.008197129,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02518302677299223,"score_gpt":0.3078889904539722,"score_spread":0.28270596368098,"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."}}