{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FLJ40906","RSPONDIN"],"biotype":"protein_coding","hgnc_id":"HGNC:21679","gene_name":"R-spondin 1","omim_gene":["609595"],"alias_name":null,"gene_symbol":"RSPO1","hgnc_symbol":"RSPO1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:38076951-38100595","ensembl_id":"ENSG00000169218"}},"GRch38":{"90":{"location":"1:37611350-37634923","ensembl_id":"ENSG00000169218"}}},"hgnc_date_symbol_changed":"2005-08-08"},"entity_type":"gene","entity_name":"RSPO1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Palmoplantar hyperkeratosis and true hermaphroditism, 610644","Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644","palmoplantar keratoderma"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":215,"hash_id":"562f5e7822c1fc582756e3bb","name":"Palmoplantar keratoderma and erythrokeratodermas","disease_group":"Dermatological disorders","disease_sub_group":"Keratodermas","status":"public","version":"1.16","version_created":"2019-06-20T15:15:14.882420Z","relevant_disorders":[],"stats":{"number_of_genes":45,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FLJ40906","RSPONDIN"],"biotype":"protein_coding","hgnc_id":"HGNC:21679","gene_name":"R-spondin 1","omim_gene":["609595"],"alias_name":null,"gene_symbol":"RSPO1","hgnc_symbol":"RSPO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:38076951-38100595","ensembl_id":"ENSG00000169218"}},"GRch38":{"90":{"location":"1:37611350-37634923","ensembl_id":"ENSG00000169218"}}},"hgnc_date_symbol_changed":"2005-08-08"},"entity_type":"gene","entity_name":"RSPO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["palmoplantar keratoderma","Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644","Palmoplantar hyperkeratosis and true hermaphroditism, 610644"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":555,"hash_id":null,"name":"Ichthyosis and erythrokeratoderma","disease_group":"","disease_sub_group":"","status":"public","version":"0.10","version_created":"2019-09-09T15:38:37.080974Z","relevant_disorders":[],"stats":{"number_of_genes":64,"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":["FLJ40906","RSPONDIN"],"biotype":"protein_coding","hgnc_id":"HGNC:21679","gene_name":"R-spondin 1","omim_gene":["609595"],"alias_name":null,"gene_symbol":"RSPO1","hgnc_symbol":"RSPO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:38076951-38100595","ensembl_id":"ENSG00000169218"}},"GRch38":{"90":{"location":"1:37611350-37634923","ensembl_id":"ENSG00000169218"}}},"hgnc_date_symbol_changed":"2005-08-08"},"entity_type":"gene","entity_name":"RSPO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Palmoplantar keratoderma"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":556,"hash_id":null,"name":"Palmoplantar keratodermas","disease_group":"","disease_sub_group":"","status":"public","version":"0.9","version_created":"2019-09-09T15:38:38.871976Z","relevant_disorders":[],"stats":{"number_of_genes":69,"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":["FLJ40906","RSPONDIN"],"biotype":"protein_coding","hgnc_id":"HGNC:21679","gene_name":"R-spondin 1","omim_gene":["609595"],"alias_name":null,"gene_symbol":"RSPO1","hgnc_symbol":"RSPO1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:38076951-38100595","ensembl_id":"ENSG00000169218"}},"GRch38":{"90":{"location":"1:37611350-37634923","ensembl_id":"ENSG00000169218"}}},"hgnc_date_symbol_changed":"2005-08-08"},"entity_type":"gene","entity_name":"RSPO1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["17041600","18085567","21991325"],"evidence":["Expert Review Green","Other","Radboud University Medical Center, Nijmegen","UKGTN"],"phenotypes":["Palmoplantar hyperkeratosis and true hermaphroditism\t610644","Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal 610644"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":9,"hash_id":"569380ac22c1fc251660faf8","name":"Disorders of sex development","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","status":"public","version":"2.1","version_created":"2019-10-01T10:16:03.440399Z","relevant_disorders":["R146"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":1},"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."}]}}]}