{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["SHAPY","SCAN-1"],"biotype":"protein_coding","hgnc_id":"HGNC:19721","gene_name":"calcium activated nucleotidase 1","omim_gene":["613165"],"alias_name":["Soluble Ca-Activated Nucleotidase, isozyme 1"],"gene_symbol":"CANT1","hgnc_symbol":"CANT1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:76987799-77005949","ensembl_id":"ENSG00000171302"}},"GRch38":{"90":{"location":"17:78991717-79009867","ensembl_id":"ENSG00000171302"}}},"hgnc_date_symbol_changed":"2004-10-15"},"entity_type":"gene","entity_name":"CANT1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","Expert list","UKGTN","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory",""],"phenotypes":["Desbuquois dysplasia 1 251450","multiple epiphyseal dysplasia type 7, 617719."],"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":["SHAPY","SCAN-1"],"biotype":"protein_coding","hgnc_id":"HGNC:19721","gene_name":"calcium activated nucleotidase 1","omim_gene":["613165"],"alias_name":["Soluble Ca-Activated Nucleotidase, isozyme 1"],"gene_symbol":"CANT1","hgnc_symbol":"CANT1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:76987799-77005949","ensembl_id":"ENSG00000171302"}},"GRch38":{"90":{"location":"17:78991717-79009867","ensembl_id":"ENSG00000171302"}}},"hgnc_date_symbol_changed":"2004-10-15"},"entity_type":"gene","entity_name":"CANT1","confidence_level":"0","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Removed","Emory Genetics Laboratory"],"phenotypes":["Disproportionate Short Stature"],"mode_of_inheritance":"","tags":[],"panel":{"id":196,"hash_id":"55896ed2bb5a1671a7fef4f9","name":"Osteogenesis imperfecta","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"2.0","version_created":"2019-09-04T11:35:54.595856Z","relevant_disorders":["Osteogenesis Imperfecta","R102"],"stats":{"number_of_genes":184,"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":["SHAPY","SCAN-1"],"biotype":"protein_coding","hgnc_id":"HGNC:19721","gene_name":"calcium activated nucleotidase 1","omim_gene":["613165"],"alias_name":["Soluble Ca-Activated Nucleotidase, isozyme 1"],"gene_symbol":"CANT1","hgnc_symbol":"CANT1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:76987799-77005949","ensembl_id":"ENSG00000171302"}},"GRch38":{"90":{"location":"17:78991717-79009867","ensembl_id":"ENSG00000171302"}}},"hgnc_date_symbol_changed":"2004-10-15"},"entity_type":"gene","entity_name":"CANT1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27881841"],"evidence":["Expert Review Red"],"phenotypes":["DESBUQUOIS DYSPLASIA 1","DBQD1"],"mode_of_inheritance":"","tags":[],"panel":{"id":81,"hash_id":"57acb8268f620364dc61afd3","name":"Clefting","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","status":"public","version":"1.59","version_created":"2019-09-03T09:03:20.170928Z","relevant_disorders":["Familial non-syndromic cleft lip and or familial cleft palate","Familial non-syndromic clefting","Syndromic cleft lip and or cleft palate","Syndromic clefting"],"stats":{"number_of_genes":258,"number_of_strs":0,"number_of_regions":5},"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":["SHAPY","SCAN-1"],"biotype":"protein_coding","hgnc_id":"HGNC:19721","gene_name":"calcium activated nucleotidase 1","omim_gene":["613165"],"alias_name":["Soluble Ca-Activated Nucleotidase, isozyme 1"],"gene_symbol":"CANT1","hgnc_symbol":"CANT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:76987799-77005949","ensembl_id":"ENSG00000171302"}},"GRch38":{"90":{"location":"17:78991717-79009867","ensembl_id":"ENSG00000171302"}}},"hgnc_date_symbol_changed":"2004-10-15"},"entity_type":"gene","entity_name":"CANT1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":285,"hash_id":"558aa423bb5a16630e15b63c","name":"Intellectual disability","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodevelopmental disorders","status":"public","version":"2.1065","version_created":"2019-10-07T13:42:16.019766Z","relevant_disorders":["Coarse facial features including Coffin-Siris-like disorders","ID","Moderate","severe or profound intellectual disability","Schizophrenia plus additional features","Intellectual disability - microarray","fragile X and sequencing"],"stats":{"number_of_genes":2253,"number_of_strs":11,"number_of_regions":57},"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"}]}}]}