{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["DSEPI","DS-Epi1"],"biotype":"protein_coding","hgnc_id":"HGNC:21144","gene_name":"dermatan sulfate epimerase","omim_gene":["605942"],"alias_name":null,"gene_symbol":"DSE","hgnc_symbol":"DSE","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:116575336-116762424","ensembl_id":"ENSG00000111817"}},"GRch38":{"90":{"location":"6:116254173-116444860","ensembl_id":"ENSG00000111817"}}},"hgnc_date_symbol_changed":"2007-01-29"},"entity_type":"gene","entity_name":"DSE","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27745832","28306229","28306225","23704329","25703627"],"evidence":["NHS GMS","Expert Review Green","Literature"],"phenotypes":["?Ehlers Danlos syndrome, musculocontractural type 2, 615539","EDSMC2","Musculocontractural EDS (mcEDS-DSE)","EDS Musculocontractural type","DSE-deficient EDS"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["missense"],"panel":{"id":53,"hash_id":"588728f38f62030cf7152165","name":"Ehlers Danlos syndromes","disease_group":"Rheumatological disorders","disease_sub_group":"Connective tissues disorders","status":"public","version":"2.1","version_created":"2019-10-09T07:04:44.655768Z","relevant_disorders":["Classical Ehlers Danlos Syndrome","Classical Ehlers-Danlos Syndrome","Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense)","Ehlers-Danlos syndrome type 3","Kyphoscoliotic Ehlers-Danlos syndrome","EDS","Ehlers-Danlos syndromes","R101"],"stats":{"number_of_genes":75,"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)"},{"name":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}]}},{"gene_data":{"alias":["DSEPI","DS-Epi1"],"biotype":"protein_coding","hgnc_id":"HGNC:21144","gene_name":"dermatan sulfate epimerase","omim_gene":["605942"],"alias_name":null,"gene_symbol":"DSE","hgnc_symbol":"DSE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:116575336-116762424","ensembl_id":"ENSG00000111817"}},"GRch38":{"90":{"location":"6:116254173-116444860","ensembl_id":"ENSG00000111817"}}},"hgnc_date_symbol_changed":"2007-01-29"},"entity_type":"gene","entity_name":"DSE","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["23704329"],"evidence":["DD-Gene2Phenotype","Expert Review Red"],"phenotypes":["EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 615539"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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"}]}}]}