{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["CLC1","ClC-1"],"biotype":"protein_coding","hgnc_id":"HGNC:2019","gene_name":"chloride voltage-gated channel 1","omim_gene":["118425"],"alias_name":["Thomsen disease, autosomal dominant"],"gene_symbol":"CLCN1","hgnc_symbol":"CLCN1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:143013219-143049176","ensembl_id":"ENSG00000188037"}},"GRch38":{"90":{"location":"7:143316126-143352083","ensembl_id":"ENSG00000188037"}}},"hgnc_date_symbol_changed":"1992-10-13"},"entity_type":"gene","entity_name":"CLCN1","confidence_level":"3","penetrance":"Incomplete","mode_of_pathogenicity":"","publications":["11840191","18337100","22649220"],"evidence":["Expert Review Green","Eligibility statement prior genetic testing","UKGTN","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Myotonia congenita, recessive, 255700","Myotonia congenita, dominant, 160800","Myotonia levior, recessive","Myotonia Congenita","Hyperkalemic Periodic Paralysis","Myotonia"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":229,"hash_id":"55c4a3ed22c1fc0fe5e416e9","name":"Skeletal Muscle Channelopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Channelopathies","status":"public","version":"1.12","version_created":"2019-06-20T15:15:16.102697Z","relevant_disorders":[],"stats":{"number_of_genes":20,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CLC1","ClC-1"],"biotype":"protein_coding","hgnc_id":"HGNC:2019","gene_name":"chloride voltage-gated channel 1","omim_gene":["118425"],"alias_name":["Thomsen disease, autosomal dominant"],"gene_symbol":"CLCN1","hgnc_symbol":"CLCN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:143013219-143049176","ensembl_id":"ENSG00000188037"}},"GRch38":{"90":{"location":"7:143316126-143352083","ensembl_id":"ENSG00000188037"}}},"hgnc_date_symbol_changed":"1992-10-13"},"entity_type":"gene","entity_name":"CLCN1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["11840191","18337100","22649220"],"evidence":["Expert Review Red","NHS GMS","London North GLH","Wessex and West Midlands GLH"],"phenotypes":["Myotonia levior, recessive","Myotonia congenita, recessive, 255700","Hyperkalemic Periodic Paralysis","Myotonia Congenita","Myotonia","Myotonia congenita, dominant, 160800"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":541,"hash_id":null,"name":"Paroxysmal central nervous system disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.168","version_created":"2019-10-01T13:39:46.962209Z","relevant_disorders":["Paroxysmal neurological disorders","pain disorders and sleep disorders"],"stats":{"number_of_genes":83,"number_of_strs":5,"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)"}]}},{"gene_data":{"alias":["CLC1","ClC-1"],"biotype":"protein_coding","hgnc_id":"HGNC:2019","gene_name":"chloride voltage-gated channel 1","omim_gene":["118425"],"alias_name":["Thomsen disease, autosomal dominant"],"gene_symbol":"CLCN1","hgnc_symbol":"CLCN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:143013219-143049176","ensembl_id":"ENSG00000188037"}},"GRch38":{"90":{"location":"7:143316126-143352083","ensembl_id":"ENSG00000188037"}}},"hgnc_date_symbol_changed":"1992-10-13"},"entity_type":"gene","entity_name":"CLCN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","NHS GMS","London North GLH"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":542,"hash_id":null,"name":"Myotonia congenita","disease_group":"","disease_sub_group":"","status":"public","version":"0.10","version_created":"2019-07-05T14:34:10.961081Z","relevant_disorders":[],"stats":{"number_of_genes":7,"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)"}]}},{"gene_data":{"alias":["CLC1","ClC-1"],"biotype":"protein_coding","hgnc_id":"HGNC:2019","gene_name":"chloride voltage-gated channel 1","omim_gene":["118425"],"alias_name":["Thomsen disease, autosomal dominant"],"gene_symbol":"CLCN1","hgnc_symbol":"CLCN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:143013219-143049176","ensembl_id":"ENSG00000188037"}},"GRch38":{"90":{"location":"7:143316126-143352083","ensembl_id":"ENSG00000188037"}}},"hgnc_date_symbol_changed":"1992-10-13"},"entity_type":"gene","entity_name":"CLCN1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["8112288","7981750"],"evidence":["NHS GMS","Yorkshire and North East GLH","Expert Review"],"phenotypes":["Myotonia congenita, dominant, 160800"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":185,"hash_id":"55b7a65322c1fc05fc7a1869","name":"Limb girdle muscular dystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"1.89","version_created":"2019-06-20T15:15:12.994579Z","relevant_disorders":[],"stats":{"number_of_genes":84,"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)"}]}}]}