{"count":6,"next":null,"previous":null,"results":[{"gene_data":{"alias":["AIP1","ARIP1","KIAA0705","ACVRIP1","MAGI-2"],"biotype":"protein_coding","hgnc_id":"HGNC:18957","gene_name":"membrane associated guanylate kinase, WW and PDZ domain containing 2","omim_gene":["606382"],"alias_name":null,"gene_symbol":"MAGI2","hgnc_symbol":"MAGI2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:77646393-79082890","ensembl_id":"ENSG00000187391"}},"GRch38":{"90":{"location":"7:78017057-79453574","ensembl_id":"ENSG00000187391"}}},"hgnc_date_symbol_changed":"2005-05-10"},"entity_type":"gene","entity_name":"MAGI2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["21143118"],"evidence":["Literature"],"phenotypes":["Celiac Disease","IBD","IBD"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":33,"hash_id":"56ba026422c1fc5025762b4f","name":"Gastrointestinal epithelial barrier disorders","disease_group":"Gastroenterological disorders","disease_sub_group":"Gastrointestinal disorders","status":"public","version":"1.59","version_created":"2019-06-20T15:11:44.535737Z","relevant_disorders":[],"stats":{"number_of_genes":82,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["AIP1","ARIP1","KIAA0705","ACVRIP1","MAGI-2"],"biotype":"protein_coding","hgnc_id":"HGNC:18957","gene_name":"membrane associated guanylate kinase, WW and PDZ domain containing 2","omim_gene":["606382"],"alias_name":null,"gene_symbol":"MAGI2","hgnc_symbol":"MAGI2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:77646393-79082890","ensembl_id":"ENSG00000187391"}},"GRch38":{"90":{"location":"7:78017057-79453574","ensembl_id":"ENSG00000187391"}}},"hgnc_date_symbol_changed":"2005-05-10"},"entity_type":"gene","entity_name":"MAGI2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27932480","29773874"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Nephrotic syndrome, type 15 617609"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":678,"hash_id":null,"name":"Unexplained paediatric onset end-stage renal disease","disease_group":"","disease_sub_group":"","status":"public","version":"0.43","version_created":"2019-09-25T12:25:36.245604Z","relevant_disorders":["R257"],"stats":{"number_of_genes":229,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"}]}},{"gene_data":{"alias":["AIP1","ARIP1","KIAA0705","ACVRIP1","MAGI-2"],"biotype":"protein_coding","hgnc_id":"HGNC:18957","gene_name":"membrane associated guanylate kinase, WW and PDZ domain containing 2","omim_gene":["606382"],"alias_name":null,"gene_symbol":"MAGI2","hgnc_symbol":"MAGI2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:77646393-79082890","ensembl_id":"ENSG00000187391"}},"GRch38":{"90":{"location":"7:78017057-79453574","ensembl_id":"ENSG00000187391"}}},"hgnc_date_symbol_changed":"2005-05-10"},"entity_type":"gene","entity_name":"MAGI2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["18565486"],"evidence":["DD-Gene2Phenotype","Expert Review Red"],"phenotypes":["EARLY ONSET EPILEPTIC ENCEPHALOPATHY"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":484,"hash_id":null,"name":"DDG2P","disease_group":"","disease_sub_group":"","status":"public","version":"1.137","version_created":"2019-10-08T15:56:59.220133Z","relevant_disorders":[],"stats":{"number_of_genes":1893,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["AIP1","ARIP1","KIAA0705","ACVRIP1","MAGI-2"],"biotype":"protein_coding","hgnc_id":"HGNC:18957","gene_name":"membrane associated guanylate kinase, WW and PDZ domain containing 2","omim_gene":["606382"],"alias_name":null,"gene_symbol":"MAGI2","hgnc_symbol":"MAGI2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:77646393-79082890","ensembl_id":"ENSG00000187391"}},"GRch38":{"90":{"location":"7:78017057-79453574","ensembl_id":"ENSG00000187391"}}},"hgnc_date_symbol_changed":"2005-05-10"},"entity_type":"gene","entity_name":"MAGI2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["18565486","27932480"],"evidence":["Wessex and West Midlands GLH","NHS GMS","Expert Review Green","UKGTN"],"phenotypes":["Nephrotic syndrome, type 15 617609","Infantile Spasms"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["cnv"],"panel":{"id":402,"hash_id":null,"name":"Genetic epilepsy syndromes","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Inherited Epilepsy Syndromes","status":"public","version":"1.363","version_created":"2019-10-08T10:06:11.607307Z","relevant_disorders":["Epilepsy Plus","Epilepsy plus other features","Genetic Epilepsy Syndromes","Epileptic encephalopathy","Familial Focal Epilepsies","Familial Genetic Generalised Epilepsies","Genetic Epilepsies with Febrile Seizures Plus (GEFS+)","Genetic Epilepsies with Febrile Seizures Plus"],"stats":{"number_of_genes":614,"number_of_strs":2,"number_of_regions":13},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["AIP1","ARIP1","KIAA0705","ACVRIP1","MAGI-2"],"biotype":"protein_coding","hgnc_id":"HGNC:18957","gene_name":"membrane associated guanylate kinase, WW and PDZ domain containing 2","omim_gene":["606382"],"alias_name":null,"gene_symbol":"MAGI2","hgnc_symbol":"MAGI2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:77646393-79082890","ensembl_id":"ENSG00000187391"}},"GRch38":{"90":{"location":"7:78017057-79453574","ensembl_id":"ENSG00000187391"}}},"hgnc_date_symbol_changed":"2005-05-10"},"entity_type":"gene","entity_name":"MAGI2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["18565486","27932480"],"evidence":["Expert Review Red"],"phenotypes":["Epileptic encephalopathy","Infantile spasms"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":285,"hash_id":"558aa423bb5a16630e15b63c","name":"Intellectual disability","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodevelopmental disorders","status":"public","version":"2.1065","version_created":"2019-10-07T13:42:16.019766Z","relevant_disorders":["Coarse facial features including Coffin-Siris-like disorders","ID","Moderate","severe or profound intellectual disability","Schizophrenia plus additional features","Intellectual disability - microarray","fragile X and sequencing"],"stats":{"number_of_genes":2253,"number_of_strs":11,"number_of_regions":57},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["AIP1","ARIP1","KIAA0705","ACVRIP1","MAGI-2"],"biotype":"protein_coding","hgnc_id":"HGNC:18957","gene_name":"membrane associated guanylate kinase, WW and PDZ domain containing 2","omim_gene":["606382"],"alias_name":null,"gene_symbol":"MAGI2","hgnc_symbol":"MAGI2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:77646393-79082890","ensembl_id":"ENSG00000187391"}},"GRch38":{"90":{"location":"7:78017057-79453574","ensembl_id":"ENSG00000187391"}}},"hgnc_date_symbol_changed":"2005-05-10"},"entity_type":"gene","entity_name":"MAGI2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29773874","27932480"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Nephrotic syndrome, type 15 617609"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":106,"hash_id":"55af787822c1fc78a829f89f","name":"Proteinuric renal disease","disease_group":"Renal and urinary tract disorders","disease_sub_group":"Syndromes with prominent renal abnormalities","status":"public","version":"1.225","version_created":"2019-10-09T10:57:45.692187Z","relevant_disorders":["R195"],"stats":{"number_of_genes":95,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"}]}}]}
