{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["botv","REGR"],"biotype":"protein_coding","hgnc_id":"HGNC:3518","gene_name":"exostosin like glycosyltransferase 3","omim_gene":["605744"],"alias_name":["REG receptor","glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"],"gene_symbol":"EXTL3","hgnc_symbol":"EXTL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:28457986-28613116","ensembl_id":"ENSG00000012232"}},"GRch38":{"90":{"location":"8:28600469-28755599","ensembl_id":"ENSG00000012232"}}},"hgnc_date_symbol_changed":"1998-03-20"},"entity_type":"gene","entity_name":"EXTL3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28148688","28132690"],"evidence":["NHS GMS","North West GLH","London North GLH","IUIS Classification February 2018","Expert Review Green","A- or hypo-gammaglobulinaemia v1.25"],"phenotypes":["Immunoskeletal dysplasia with neurodevelopmental abnormalities, 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