{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FLJ32769","FLJ16363"],"biotype":"protein_coding","hgnc_id":"HGNC:17109","gene_name":"ADAM metallopeptidase with thrombospondin type 1 motif 17","omim_gene":["607511"],"alias_name":null,"gene_symbol":"ADAMTS17","hgnc_symbol":"ADAMTS17","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:100511794-100882210","ensembl_id":"ENSG00000140470"}},"GRch38":{"90":{"location":"15:99971589-100342005","ensembl_id":"ENSG00000140470"}}},"hgnc_date_symbol_changed":"2002-02-13"},"entity_type":"gene","entity_name":"ADAMTS17","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["2268","6506","19836009"],"evidence":["Expert Review Green","GDL Glaucoma panel"],"phenotypes":["Weill-Marchesani-like syndrome- lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature, but no brachydactyly (AR)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":249,"hash_id":"55507b25bb5a161bf644a3b2","name":"Glaucoma (developmental)","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"1.5","version_created":"2019-06-20T15:15:07.662717Z","relevant_disorders":[],"stats":{"number_of_genes":224,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FLJ32769","FLJ16363"],"biotype":"protein_coding","hgnc_id":"HGNC:17109","gene_name":"ADAM metallopeptidase with thrombospondin type 1 motif 17","omim_gene":["607511"],"alias_name":null,"gene_symbol":"ADAMTS17","hgnc_symbol":"ADAMTS17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:100511794-100882210","ensembl_id":"ENSG00000140470"}},"GRch38":{"90":{"location":"15:99971589-100342005","ensembl_id":"ENSG00000140470"}}},"hgnc_date_symbol_changed":"2002-02-13"},"entity_type":"gene","entity_name":"ADAMTS17","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19836009","22486325","31019231","24940034"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Weill-Marchesani syndrome type 4"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":309,"hash_id":"5693952f22c1fc251660fb1e","name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"1.203","version_created":"2019-10-03T09:38:50.417968Z","relevant_disorders":["Unexplained skeletal dysplasia","Skeletal dysplasia"],"stats":{"number_of_genes":546,"number_of_strs":1,"number_of_regions":6},"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["FLJ32769","FLJ16363"],"biotype":"protein_coding","hgnc_id":"HGNC:17109","gene_name":"ADAM metallopeptidase with thrombospondin type 1 motif 17","omim_gene":["607511"],"alias_name":null,"gene_symbol":"ADAMTS17","hgnc_symbol":"ADAMTS17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:100511794-100882210","ensembl_id":"ENSG00000140470"}},"GRch38":{"90":{"location":"15:99971589-100342005","ensembl_id":"ENSG00000140470"}}},"hgnc_date_symbol_changed":"2002-02-13"},"entity_type":"gene","entity_name":"ADAMTS17","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19836009","22486325","24940034","30712880"],"evidence":["Expert Review Green","PAGE Additional Gene List"],"phenotypes":["Weill-Marchesani 4 syndrome, recessive, 613195"],"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":["FLJ32769","FLJ16363"],"biotype":"protein_coding","hgnc_id":"HGNC:17109","gene_name":"ADAM metallopeptidase with thrombospondin type 1 motif 17","omim_gene":["607511"],"alias_name":null,"gene_symbol":"ADAMTS17","hgnc_symbol":"ADAMTS17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:100511794-100882210","ensembl_id":"ENSG00000140470"}},"GRch38":{"90":{"location":"15:99971589-100342005","ensembl_id":"ENSG00000140470"}}},"hgnc_date_symbol_changed":"2002-02-13"},"entity_type":"gene","entity_name":"ADAMTS17","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19836009"],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Weill-Marchesani-like syndrome- lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature, but no brachydactyly (AR)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":509,"hash_id":null,"name":"Structural eye disease","disease_group":"","disease_sub_group":"","status":"public","version":"0.93","version_created":"2019-10-09T13:18:12.923145Z","relevant_disorders":["R36"],"stats":{"number_of_genes":456,"number_of_strs":0,"number_of_regions":2},"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)"}]}}]}