{"id":"W3013173075","doi":"10.1016/j.ajhg.2020.03.001","title":"Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy","year":2020,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":41,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Children's Hospital; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"UCLH Biomedical Research Centre; Medical Research Council; Fondazione Bambino Gesù; Ministry of Health, Labour and Welfare; Fonds de Recherche du Québec - Santé; Ministero della Salute; Canadian Institutes of Health Research; National Institute for Health and Care Research; Cancer Research UK; Wellcome Trust","keywords":"Hypotonia; Epilepsy; Atrophy; Allele; Medicine; Muscle Hypotonia; Genetics; Biology; Neuroscience; Gene","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":[0.0002310857,0.002999157,0.0004424675,0.001372178,0.0006593839,0.0004596909,0.0006204874,0.001588666,0.002713781],"category_scores_gemma":[0.001159965,0.000418052,0.0004545834,0.001057389,0.0008650495,0.0003408691,0.0009748408,0.000777216,0.0005667855],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004577065,"about_ca_system_score_gemma":0.0003863419,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00261648,"about_ca_topic_score_gemma":0.0038605,"domain_scores_codex":[0.9995962,0.00006190802,0.00006340139,0.00008863281,0.0001405616,0.00004927558],"domain_scores_gemma":[0.9992726,0.0002224654,0.0002038868,0.00003463677,0.0000462996,0.0002199894],"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":[0.001453026,0.0003251424,0.08958336,0.0001540926,0.0004715896,0.6229194,0.0008996459,0.0007643603,0.2636911,0.002724614,0.002240436,0.01477326],"study_design_scores_gemma":[0.0002439283,0.000586561,0.3927628,0.0000722754,0.0003723622,0.5746603,0.0006451722,0.002746076,0.02211472,0.001911139,0.003801958,0.00008278698],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9931606,0.0004641858,0.001935814,0.000550617,0.0001107813,0.0000427173,0.0005784295,0.0001071136,0.003049751],"genre_scores_gemma":[0.997016,0.0001704827,0.001201368,0.0001767046,0.0000541078,0.00001300675,0.0002806999,0.00004140095,0.001046291],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002999157,"threshold_uncertainty_score":0.009078443,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01402262919811818,"score_gpt":0.2245257054164563,"score_spread":0.2105030762183381,"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."}}