{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:638","gene_name":"aquaporin 5","omim_gene":["600442"],"alias_name":null,"gene_symbol":"AQP5","hgnc_symbol":"AQP5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:50355653-50359464","ensembl_id":"ENSG00000161798"}},"GRch38":{"90":{"location":"12:49961870-49965681","ensembl_id":"ENSG00000161798"}}},"hgnc_date_symbol_changed":"1994-07-25"},"entity_type":"gene","entity_name":"AQP5","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27255181","23867895","23830519"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Palmoplantar keratoderma, Bothnian type, 600231"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:638","gene_name":"aquaporin 5","omim_gene":["600442"],"alias_name":null,"gene_symbol":"AQP5","hgnc_symbol":"AQP5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:50355653-50359464","ensembl_id":"ENSG00000161798"}},"GRch38":{"90":{"location":"12:49961870-49965681","ensembl_id":"ENSG00000161798"}}},"hgnc_date_symbol_changed":"1994-07-25"},"entity_type":"gene","entity_name":"AQP5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["28787010"],"evidence":["Literature"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":394,"hash_id":null,"name":"Familial Meniere Disease","disease_group":"Hearing and ear disorders","disease_sub_group":"Other hearing and ear disorders","status":"public","version":"1.1","version_created":"2018-01-17T16:26:29.432517Z","relevant_disorders":[],"stats":{"number_of_genes":130,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:638","gene_name":"aquaporin 5","omim_gene":["600442"],"alias_name":null,"gene_symbol":"AQP5","hgnc_symbol":"AQP5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:50355653-50359464","ensembl_id":"ENSG00000161798"}},"GRch38":{"90":{"location":"12:49961870-49965681","ensembl_id":"ENSG00000161798"}}},"hgnc_date_symbol_changed":"1994-07-25"},"entity_type":"gene","entity_name":"AQP5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23830519","27255181","23867895"],"evidence":["Expert Review Green"],"phenotypes":["Palmoplantar keratoderma, Bothnian type, 600231"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:638","gene_name":"aquaporin 5","omim_gene":["600442"],"alias_name":null,"gene_symbol":"AQP5","hgnc_symbol":"AQP5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:50355653-50359464","ensembl_id":"ENSG00000161798"}},"GRch38":{"90":{"location":"12:49961870-49965681","ensembl_id":"ENSG00000161798"}}},"hgnc_date_symbol_changed":"1994-07-25"},"entity_type":"gene","entity_name":"AQP5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Palmoplantar keratoderma"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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"}]}}]}
