{"count":6,"next":null,"previous":null,"results":[{"gene_data":{"alias":["MED","THBS5"],"biotype":"protein_coding","hgnc_id":"HGNC:2227","gene_name":"cartilage oligomeric matrix protein","omim_gene":["600310"],"alias_name":["thrombospondin-5"],"gene_symbol":"COMP","hgnc_symbol":"COMP","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:18893583-18902123","ensembl_id":"ENSG00000105664"}},"GRch38":{"90":{"location":"19:18782773-18791314","ensembl_id":"ENSG00000105664"}}},"hgnc_date_symbol_changed":"1994-05-24"},"entity_type":"gene","entity_name":"COMP","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID: 24595329","17133256"],"evidence":["Expert Review Green","Eligibility statement prior genetic testing","Expert","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["multiple epiphyseal dysplasia, pseudoachondroplasia","Multiple Epiphyseal Dysplasia, Dominant","Epiphyseal dysplasia, multiple, 1"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["nucleotide-repeat-expansion"],"panel":{"id":211,"hash_id":"553f968cbb5a1616e5ed45cd","name":"Multiple Epiphyseal Dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"1.2","version_created":"2017-11-05T02:37:20.234212Z","relevant_disorders":[],"stats":{"number_of_genes":11,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["MED","THBS5"],"biotype":"protein_coding","hgnc_id":"HGNC:2227","gene_name":"cartilage oligomeric matrix protein","omim_gene":["600310"],"alias_name":["thrombospondin-5"],"gene_symbol":"COMP","hgnc_symbol":"COMP","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:18893583-18902123","ensembl_id":"ENSG00000105664"}},"GRch38":{"90":{"location":"19:18782773-18791314","ensembl_id":"ENSG00000105664"}}},"hgnc_date_symbol_changed":"1994-05-24"},"entity_type":"gene","entity_name":"COMP","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","","Emory Genetics Laboratory","Eligibility statement prior genetic testing","Expert","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Epiphyseal dysplasia, multiple, 1 132400","Pseudoachondroplasia 177170"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["nucleotide-repeat-expansion"],"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":["MED","THBS5"],"biotype":"protein_coding","hgnc_id":"HGNC:2227","gene_name":"cartilage oligomeric matrix protein","omim_gene":["600310"],"alias_name":["thrombospondin-5"],"gene_symbol":"COMP","hgnc_symbol":"COMP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:18893583-18902123","ensembl_id":"ENSG00000105664"}},"GRch38":{"90":{"location":"19:18782773-18791314","ensembl_id":"ENSG00000105664"}}},"hgnc_date_symbol_changed":"1994-05-24"},"entity_type":"gene","entity_name":"COMP","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["ARE THE CAUSE OF PSEUDOACHONDROPLASIA","MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["MED","THBS5"],"biotype":"protein_coding","hgnc_id":"HGNC:2227","gene_name":"cartilage oligomeric matrix protein","omim_gene":["600310"],"alias_name":["thrombospondin-5"],"gene_symbol":"COMP","hgnc_symbol":"COMP","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:18893583-18902123","ensembl_id":"ENSG00000105664"}},"GRch38":{"90":{"location":"19:18782773-18791314","ensembl_id":"ENSG00000105664"}}},"hgnc_date_symbol_changed":"1994-05-24"},"entity_type":"gene","entity_name":"COMP","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":["MED","THBS5"],"biotype":"protein_coding","hgnc_id":"HGNC:2227","gene_name":"cartilage oligomeric matrix protein","omim_gene":["600310"],"alias_name":["thrombospondin-5"],"gene_symbol":"COMP","hgnc_symbol":"COMP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:18893583-18902123","ensembl_id":"ENSG00000105664"}},"GRch38":{"90":{"location":"19:18782773-18791314","ensembl_id":"ENSG00000105664"}}},"hgnc_date_symbol_changed":"1994-05-24"},"entity_type":"gene","entity_name":"COMP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["9463320","7670472","9887340","12483304","9021009"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400","ARE THE CAUSE OF PSEUDOACHONDROPLASIA 177170"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":484,"hash_id":null,"name":"DDG2P","disease_group":"","disease_sub_group":"","status":"public","version":"1.137","version_created":"2019-10-08T15:56:59.220133Z","relevant_disorders":[],"stats":{"number_of_genes":1893,"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":["MED","THBS5"],"biotype":"protein_coding","hgnc_id":"HGNC:2227","gene_name":"cartilage oligomeric matrix protein","omim_gene":["600310"],"alias_name":["thrombospondin-5"],"gene_symbol":"COMP","hgnc_symbol":"COMP","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:18893583-18902123","ensembl_id":"ENSG00000105664"}},"GRch38":{"90":{"location":"19:18782773-18791314","ensembl_id":"ENSG00000105664"}}},"hgnc_date_symbol_changed":"1994-05-24"},"entity_type":"gene","entity_name":"COMP","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Pseudoachondroplasia, 177170","Epiphyseal dysplasia, multiple 1, 132400"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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"}]}}]}