{"id":"W4380608025","doi":"10.1136/jmg-2022-109127","title":"Dominant negative variants in <i>IKZF2</i> cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay","year":2023,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's & Women's Health Centre of British Columbia; BC Children's Hospital; University of British Columbia","funders":"National Institute of Neurological Disorders and Stroke; National Institutes of Health; Genome British Columbia; Canadian Institutes of Health Research; Genome Canada; National Human Genome Research Institute; BC Children's Hospital; Jeffrey Modell Foundation","keywords":"Biology; Proband; Genetics; Craniofacial; Missense mutation; Phenotype; Loss function; Hearing loss; Zinc finger; Transcription factor; Mutation; Gene; Medicine","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":[0.0001363004,0.002817963,0.0007329659,0.00136982,0.0006315013,0.0004302805,0.0008031868,0.001086185,0.003925563],"category_scores_gemma":[0.0006136748,0.0003112594,0.0004927416,0.0009962099,0.00114222,0.0002602596,0.0007031216,0.0008309381,0.0006122292],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003541591,"about_ca_system_score_gemma":0.0003049035,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001326476,"about_ca_topic_score_gemma":0.001824715,"domain_scores_codex":[0.9996774,0.00002776469,0.00002894217,0.0001140237,0.00009865326,0.00005317277],"domain_scores_gemma":[0.9996414,0.0001025467,0.00008959607,0.00002241357,0.00002404434,0.0001199296],"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":[0.0008020205,0.0001521334,0.04278319,0.000345709,0.0002513181,0.5990989,0.00110884,0.0005058812,0.333225,0.001667429,0.001864056,0.01819541],"study_design_scores_gemma":[0.0002111668,0.0004392724,0.1178833,0.00007948444,0.0002765684,0.8330344,0.000479443,0.0009175187,0.03702057,0.0009735466,0.008618813,0.00006598307],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.989467,0.0009148641,0.003611077,0.000277039,0.00007792952,0.0000885436,0.001191011,0.0003101459,0.004062381],"genre_scores_gemma":[0.9953665,0.0003473331,0.002218505,0.0001048429,0.00007658977,0.0000311989,0.0004576585,0.00004081073,0.001356638],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003925563,"threshold_uncertainty_score":0.01313233,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01398276913188657,"score_gpt":0.2877116783125985,"score_spread":0.2737289091807119,"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."}}