{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["SLAC2-B"],"biotype":"protein_coding","hgnc_id":"HGNC:30578","gene_name":"exophilin 5","omim_gene":["612878"],"alias_name":["synaptotagmin-like homologue lacking C2 domains b"],"gene_symbol":"EXPH5","hgnc_symbol":"EXPH5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:108376158-108464465","ensembl_id":"ENSG00000110723"}},"GRch38":{"90":{"location":"11:108505431-108593738","ensembl_id":"ENSG00000110723"}}},"hgnc_date_symbol_changed":"2005-10-04"},"entity_type":"gene","entity_name":"EXPH5","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["23176819","26719633","27730671"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Eligibility statement prior genetic testing"],"phenotypes":["Epidermolysis bullosa, nonspecific, autosomal recessive, 615028","Epidermolysis bullosa simplex"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":119,"hash_id":"56310b9a22c1fc58285b282c","name":"Epidermolysis bullosa","disease_group":"Dermatological disorders","disease_sub_group":"Skin fragility disorders","status":"public","version":"1.6","version_created":"2019-01-07T16:40:38.182703Z","relevant_disorders":[],"stats":{"number_of_genes":21,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["SLAC2-B"],"biotype":"protein_coding","hgnc_id":"HGNC:30578","gene_name":"exophilin 5","omim_gene":["612878"],"alias_name":["synaptotagmin-like homologue lacking C2 domains b"],"gene_symbol":"EXPH5","hgnc_symbol":"EXPH5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:108376158-108464465","ensembl_id":"ENSG00000110723"}},"GRch38":{"90":{"location":"11:108505431-108593738","ensembl_id":"ENSG00000110723"}}},"hgnc_date_symbol_changed":"2005-10-04"},"entity_type":"gene","entity_name":"EXPH5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23176819","27730671","26719633"],"evidence":["Expert Review Green"],"phenotypes":["Epidermolysis bullosa, nonspecific, autosomal recessive, 615028","Epidermolysis bullosa simplex"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":554,"hash_id":null,"name":"Epidermolysis bullosa and congenital skin fragility","disease_group":"","disease_sub_group":"","status":"public","version":"0.16","version_created":"2019-09-17T18:43:54.606444Z","relevant_disorders":[],"stats":{"number_of_genes":46,"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":["SLAC2-B"],"biotype":"protein_coding","hgnc_id":"HGNC:30578","gene_name":"exophilin 5","omim_gene":["612878"],"alias_name":["synaptotagmin-like homologue lacking C2 domains b"],"gene_symbol":"EXPH5","hgnc_symbol":"EXPH5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:108376158-108464465","ensembl_id":"ENSG00000110723"}},"GRch38":{"90":{"location":"11:108505431-108593738","ensembl_id":"ENSG00000110723"}}},"hgnc_date_symbol_changed":"2005-10-04"},"entity_type":"gene","entity_name":"EXPH5","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","PAGE DD-Gene2Phenotype"],"phenotypes":["INHERITED SKIN FRAGILITY"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":478,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","status":"public","version":"0.344","version_created":"2019-09-17T09:38:10.568007Z","relevant_disorders":["R21"],"stats":{"number_of_genes":1721,"number_of_strs":0,"number_of_regions":0},"types":[{"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."}]}},{"gene_data":{"alias":["SLAC2-B"],"biotype":"protein_coding","hgnc_id":"HGNC:30578","gene_name":"exophilin 5","omim_gene":["612878"],"alias_name":["synaptotagmin-like homologue lacking C2 domains b"],"gene_symbol":"EXPH5","hgnc_symbol":"EXPH5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:108376158-108464465","ensembl_id":"ENSG00000110723"}},"GRch38":{"90":{"location":"11:108505431-108593738","ensembl_id":"ENSG00000110723"}}},"hgnc_date_symbol_changed":"2005-10-04"},"entity_type":"gene","entity_name":"EXPH5","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["23176819"],"evidence":["DD-Gene2Phenotype","Expert Review Amber"],"phenotypes":["INHERITED SKIN FRAGILITY 615028"],"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"}]}}]}
