{"id":"W3094608193","doi":"10.1002/ajmg.a.61929","title":"<scp><i>MEIS2</i></scp> sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of <scp>low‐level</scp> mosaicism in an unaffected parent","year":2020,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; North York General Hospital","funders":"","keywords":"Proband; Intellectual disability; Biology; Genetics; Exome sequencing; Phenotype; Gene; Mutation","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":[0.0002333102,0.001265421,0.0005399156,0.001375538,0.0009756181,0.0004641887,0.0006054915,0.001150713,0.001426191],"category_scores_gemma":[0.001281342,0.0004028324,0.0004656037,0.0007364538,0.001050464,0.0003627477,0.0006809579,0.001201812,0.0003237326],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004741331,"about_ca_system_score_gemma":0.0005018096,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004959418,"about_ca_topic_score_gemma":0.004224715,"domain_scores_codex":[0.9996688,0.000031842,0.00003274692,0.00009862316,0.00008929399,0.00007863531],"domain_scores_gemma":[0.9994472,0.0001697259,0.0001044646,0.00001890826,0.00004736034,0.0002123231],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001499311,0.0001491727,0.03984404,0.00004979006,0.00003059346,0.9327345,0.001394109,0.0002382532,0.01975409,0.0003934682,0.0007749161,0.004487269],"study_design_scores_gemma":[0.00003105488,0.0004567308,0.1012794,0.00003075666,0.00004610861,0.8909605,0.000324839,0.0007002712,0.004555248,0.0001340181,0.001455512,0.00002561093],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969128,0.0001952031,0.0006230859,0.0003995945,0.00003289429,0.00004292569,0.0002914388,0.00005390891,0.001448047],"genre_scores_gemma":[0.9980855,0.0002482336,0.0007257092,0.0001268408,0.00005991422,0.00001860948,0.0001683078,0.00002115704,0.0005456865],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004959418,"threshold_uncertainty_score":0.009861052,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01253117040312926,"score_gpt":0.2460343497240184,"score_spread":0.2335031793208891,"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."}}