{"count":8,"next":null,"previous":null,"results":[{"gene_data":{"alias":["CSPGCP"],"biotype":"protein_coding","hgnc_id":"HGNC:319","gene_name":"aggrecan","omim_gene":["155760"],"alias_name":["aggrecan proteoglycan"],"gene_symbol":"ACAN","hgnc_symbol":"ACAN","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:89346674-89418585","ensembl_id":"ENSG00000157766"}},"GRch38":{"90":{"location":"15:88803443-88875354","ensembl_id":"ENSG00000157766"}}},"hgnc_date_symbol_changed":"2007-02-16"},"entity_type":"gene","entity_name":"ACAN","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24762113"],"evidence":["Expert Review Red","Literature"],"phenotypes":["short stature, accelerated bone maturation, Spondyloepiphyseal dysplasia, early onset osteoarthritis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":131,"hash_id":"553f9744bb5a1616e5ed45e8","name":"IUGR and IGF abnormalities","disease_group":"Endocrine disorders","disease_sub_group":"Growth hormone disorders","status":"public","version":"1.29","version_created":"2019-08-05T14:01:03.716110Z","relevant_disorders":[],"stats":{"number_of_genes":110,"number_of_strs":0,"number_of_regions":5},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CSPGCP"],"biotype":"protein_coding","hgnc_id":"HGNC:319","gene_name":"aggrecan","omim_gene":["155760"],"alias_name":["aggrecan proteoglycan"],"gene_symbol":"ACAN","hgnc_symbol":"ACAN","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:89346674-89418585","ensembl_id":"ENSG00000157766"}},"GRch38":{"90":{"location":"15:88803443-88875354","ensembl_id":"ENSG00000157766"}}},"hgnc_date_symbol_changed":"2007-02-16"},"entity_type":"gene","entity_name":"ACAN","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24762113"],"evidence":["NHS GMS","Expert Review Green","","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen"],"phenotypes":["Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800","Spondyloepimetaphyseal dysplasia, aggrecan type 61283","Spondyloepiphyseal dysplasia, Kimberley type 608361"],"mode_of_inheritance":"BOTH monoallelic and 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":["CSPGCP"],"biotype":"protein_coding","hgnc_id":"HGNC:319","gene_name":"aggrecan","omim_gene":["155760"],"alias_name":["aggrecan proteoglycan"],"gene_symbol":"ACAN","hgnc_symbol":"ACAN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89346674-89418585","ensembl_id":"ENSG00000157766"}},"GRch38":{"90":{"location":"15:88803443-88875354","ensembl_id":"ENSG00000157766"}}},"hgnc_date_symbol_changed":"2007-02-16"},"entity_type":"gene","entity_name":"ACAN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY","SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE"],"mode_of_inheritance":"BOTH monoallelic and 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":["CSPGCP"],"biotype":"protein_coding","hgnc_id":"HGNC:319","gene_name":"aggrecan","omim_gene":["155760"],"alias_name":["aggrecan proteoglycan"],"gene_symbol":"ACAN","hgnc_symbol":"ACAN","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:89346674-89418585","ensembl_id":"ENSG00000157766"}},"GRch38":{"90":{"location":"15:88803443-88875354","ensembl_id":"ENSG00000157766"}}},"hgnc_date_symbol_changed":"2007-02-16"},"entity_type":"gene","entity_name":"ACAN","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen"],"phenotypes":["Spondyloepiphyseal dysplasia, Kimberley type, 608361","Spondyloepimetaphyseal dysplasia, aggrecan type, 612813","Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800","Spondyloepimetaphyseal dysplasia, aggrecan type, 612813","Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800","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":["CSPGCP"],"biotype":"protein_coding","hgnc_id":"HGNC:319","gene_name":"aggrecan","omim_gene":["155760"],"alias_name":["aggrecan proteoglycan"],"gene_symbol":"ACAN","hgnc_symbol":"ACAN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89346674-89418585","ensembl_id":"ENSG00000157766"}},"GRch38":{"90":{"location":"15:88803443-88875354","ensembl_id":"ENSG00000157766"}}},"hgnc_date_symbol_changed":"2007-02-16"},"entity_type":"gene","entity_name":"ACAN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE 612813","SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY 608361"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["CSPGCP"],"biotype":"protein_coding","hgnc_id":"HGNC:319","gene_name":"aggrecan","omim_gene":["155760"],"alias_name":["aggrecan proteoglycan"],"gene_symbol":"ACAN","hgnc_symbol":"ACAN","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:89346674-89418585","ensembl_id":"ENSG00000157766"}},"GRch38":{"90":{"location":"15:88803443-88875354","ensembl_id":"ENSG00000157766"}}},"hgnc_date_symbol_changed":"2007-02-16"},"entity_type":"gene","entity_name":"ACAN","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":126,"hash_id":"558ac48fbb5a16630dcfeaad","name":"Hearing loss","disease_group":"Hearing and ear disorders","disease_sub_group":"Non-syndromic hearing loss","status":"public","version":"2.2","version_created":"2019-09-03T14:01:56.987667Z","relevant_disorders":["Congenital hearing impairment","Autosomal dominant deafness","Congenital hearing impairment (profound/severe)","R67"],"stats":{"number_of_genes":358,"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 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":"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."},{"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":["CSPGCP"],"biotype":"protein_coding","hgnc_id":"HGNC:319","gene_name":"aggrecan","omim_gene":["155760"],"alias_name":["aggrecan proteoglycan"],"gene_symbol":"ACAN","hgnc_symbol":"ACAN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89346674-89418585","ensembl_id":"ENSG00000157766"}},"GRch38":{"90":{"location":"15:88803443-88875354","ensembl_id":"ENSG00000157766"}}},"hgnc_date_symbol_changed":"2007-02-16"},"entity_type":"gene","entity_name":"ACAN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24762113","27870580"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (AD), 165800","Spondyloepimetaphyseal dysplasia, aggrecan type (AR), 612813","short stature, accelerated bone maturation, Spondyloepiphyseal dysplasia, early onset osteoarthritis","?Spondyloepiphyseal dysplasia, Kimberley type (AD), 608361"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":473,"hash_id":null,"name":"Growth failure in early childhood","disease_group":"","disease_sub_group":"","status":"public","version":"1.3","version_created":"2019-08-14T09:11:49.488162Z","relevant_disorders":["R147"],"stats":{"number_of_genes":126,"number_of_strs":0,"number_of_regions":5},"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."},{"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":["CSPGCP"],"biotype":"protein_coding","hgnc_id":"HGNC:319","gene_name":"aggrecan","omim_gene":["155760"],"alias_name":["aggrecan proteoglycan"],"gene_symbol":"ACAN","hgnc_symbol":"ACAN","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:89346674-89418585","ensembl_id":"ENSG00000157766"}},"GRch38":{"90":{"location":"15:88803443-88875354","ensembl_id":"ENSG00000157766"}}},"hgnc_date_symbol_changed":"2007-02-16"},"entity_type":"gene","entity_name":"ACAN","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Spondyloepiphyseal dysplasia, Kimberley type, 608361","Spondyloepimetaphyseal dysplasia, aggrecan type, 612813","Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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"}]}}]}
