{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11194","gene_name":"SRY-box 18","omim_gene":["601618"],"alias_name":null,"gene_symbol":"SOX18","hgnc_symbol":"SOX18","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"20:62679076-62680994","ensembl_id":"ENSG00000203883"}},"GRch38":{"90":{"location":"20:64047582-64049641","ensembl_id":"ENSG00000203883"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"SOX18","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen"],"phenotypes":["Hypotrichosis-lymphedema-telangiectasia syndrome, 607823","Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome\t137940"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":123,"hash_id":"5633857722c1fc582756e3d9","name":"Hereditary haemorrhagic telangiectasia","disease_group":"Respiratory disorders","disease_sub_group":"Vascular lung disorders","status":"public","version":"2.0","version_created":"2019-09-23T17:00:03.179221Z","relevant_disorders":["Familial and multiple pulmonary arteriovenous malformations","R186"],"stats":{"number_of_genes":15,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:11194","gene_name":"SRY-box 18","omim_gene":["601618"],"alias_name":null,"gene_symbol":"SOX18","hgnc_symbol":"SOX18","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:62679076-62680994","ensembl_id":"ENSG00000203883"}},"GRch38":{"90":{"location":"20:64047582-64049641","ensembl_id":"ENSG00000203883"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"SOX18","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Hypotrichosis-lymphedema-telangiectasia syndrome"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":559,"hash_id":null,"name":"Pigmentary skin disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.15","version_created":"2019-09-17T17:51:23.014209Z","relevant_disorders":[],"stats":{"number_of_genes":102,"number_of_strs":0,"number_of_regions":1},"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:11194","gene_name":"SRY-box 18","omim_gene":["601618"],"alias_name":null,"gene_symbol":"SOX18","hgnc_symbol":"SOX18","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:62679076-62680994","ensembl_id":"ENSG00000203883"}},"GRch38":{"90":{"location":"20:64047582-64049641","ensembl_id":"ENSG00000203883"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"SOX18","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Hypotrichosis-lymphedema-telangiectasia syndrome"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":563,"hash_id":null,"name":"Vascular skin disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.13","version_created":"2019-09-09T15:38:44.120161Z","relevant_disorders":[],"stats":{"number_of_genes":34,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:11194","gene_name":"SRY-box 18","omim_gene":["601618"],"alias_name":null,"gene_symbol":"SOX18","hgnc_symbol":"SOX18","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"20:62679076-62680994","ensembl_id":"ENSG00000203883"}},"GRch38":{"90":{"location":"20:64047582-64049641","ensembl_id":"ENSG00000203883"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"SOX18","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26148450","12740761"],"evidence":["London South GLH","Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Hypotrichosis-lymphedema-telangiectasia syndrome, 607823","Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome\t137940"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":65,"hash_id":"57ee82ef8f62035c9b2d0487","name":"Primary lymphoedema","disease_group":"Cardiovascular disorders","disease_sub_group":"Lymphatic Disorders","status":"public","version":"2.0","version_created":"2019-10-02T14:10:33.689992Z","relevant_disorders":["Lymphatic Disorders","Meiges disease","Meige disease","Milroy disease","Lymphoedema distichiasis","Lipoedema disease","R136"],"stats":{"number_of_genes":51,"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 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":"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."}]}}]}