{"count":11,"next":null,"previous":null,"results":[{"gene_data":{"alias":["GDD1"],"biotype":"protein_coding","hgnc_id":"HGNC:27337","gene_name":"anoctamin 5","omim_gene":["608662"],"alias_name":null,"gene_symbol":"ANO5","hgnc_symbol":"ANO5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:22214722-22304903","ensembl_id":"ENSG00000171714"}},"GRch38":{"90":{"location":"11:22193176-22283357","ensembl_id":"ENSG00000171714"}}},"hgnc_date_symbol_changed":"2008-08-28"},"entity_type":"gene","entity_name":"ANO5","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["20096397"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Miyoshi muscular dystrophy 3, 613319"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":235,"hash_id":"55b7a0bb22c1fc05fd2345d1","name":"Distal myopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"1.11","version_created":"2019-06-20T15:15:01.364887Z","relevant_disorders":[],"stats":{"number_of_genes":27,"number_of_strs":2,"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."}]}},{"gene_data":{"alias":["GDD1"],"biotype":"protein_coding","hgnc_id":"HGNC:27337","gene_name":"anoctamin 5","omim_gene":["608662"],"alias_name":null,"gene_symbol":"ANO5","hgnc_symbol":"ANO5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:22214722-22304903","ensembl_id":"ENSG00000171714"}},"GRch38":{"90":{"location":"11:22193176-22283357","ensembl_id":"ENSG00000171714"}}},"hgnc_date_symbol_changed":"2008-08-28"},"entity_type":"gene","entity_name":"ANO5","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25929793"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory"],"phenotypes":["Miyoshi muscular dystrophy 3\t613319","Muscular dystrophy, limb-girdle, type 2L\t611307"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":66,"hash_id":"55b63d7f22c1fc05fc7a185b","name":"Rhabdomyolysis and metabolic muscle disorders","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"1.28","version_created":"2019-08-08T11:47:51.945935Z","relevant_disorders":[],"stats":{"number_of_genes":55,"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."}]}},{"gene_data":{"alias":["GDD1"],"biotype":"protein_coding","hgnc_id":"HGNC:27337","gene_name":"anoctamin 5","omim_gene":["608662"],"alias_name":null,"gene_symbol":"ANO5","hgnc_symbol":"ANO5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:22214722-22304903","ensembl_id":"ENSG00000171714"}},"GRch38":{"90":{"location":"11:22193176-22283357","ensembl_id":"ENSG00000171714"}}},"hgnc_date_symbol_changed":"2008-08-28"},"entity_type":"gene","entity_name":"ANO5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25929793","20096397"],"evidence":["Expert Review Green"],"phenotypes":["Limb-Girdle Muscular Dystrophy, Recessive","Muscular dystrophy, limb-girdle, type 2L, 611307","Miyoshi muscular dystrophy 3, 613319","Miyoshi muscular dystrophy 3","Limb-girdle muscular dystrophy","Gnathodiaphyseal dysplasia, 166260","Miyoshi muscular dystrophy 3, 613319","Gnathodiaphyseal dysplasia, 166260","Muscular dystrophy, limb-girdle, type 2L, 611307","Miyoshi muscular dystrophy 3, 613319"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":465,"hash_id":null,"name":"Neuromuscular disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.11","version_created":"2019-10-09T12:42:27.875560Z","relevant_disorders":["Other rare neuromuscular disorders; R381"],"stats":{"number_of_genes":245,"number_of_strs":2,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["GDD1"],"biotype":"protein_coding","hgnc_id":"HGNC:27337","gene_name":"anoctamin 5","omim_gene":["608662"],"alias_name":null,"gene_symbol":"ANO5","hgnc_symbol":"ANO5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:22214722-22304903","ensembl_id":"ENSG00000171714"}},"GRch38":{"90":{"location":"11:22193176-22283357","ensembl_id":"ENSG00000171714"}}},"hgnc_date_symbol_changed":"2008-08-28"},"entity_type":"gene","entity_name":"ANO5","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Gnathodiaphyseal dysplasia, 166260","Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319","Limb-Girdle Muscular Dystrophy, Recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":207,"hash_id":"55b117c022c1fc7dd7ce411c","name":"Congenital muscular dystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"1.62","version_created":"2019-10-09T12:19:40.245789Z","relevant_disorders":[],"stats":{"number_of_genes":53,"number_of_strs":1,"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)"}]}},{"gene_data":{"alias":["GDD1"],"biotype":"protein_coding","hgnc_id":"HGNC:27337","gene_name":"anoctamin 5","omim_gene":["608662"],"alias_name":null,"gene_symbol":"ANO5","hgnc_symbol":"ANO5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:22214722-22304903","ensembl_id":"ENSG00000171714"}},"GRch38":{"90":{"location":"11:22193176-22283357","ensembl_id":"ENSG00000171714"}}},"hgnc_date_symbol_changed":"2008-08-28"},"entity_type":"gene","entity_name":"ANO5","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Expert list"],"phenotypes":["Gnathodiaphyseal dysplasia, 166260","Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319","Limb-Girdle Muscular Dystrophy, Recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":"55b75d5b22c1fc05fd2345c9","name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"2.45","version_created":"2019-10-07T10:19:07.721001Z","relevant_disorders":["Arthrogrythsis"],"stats":{"number_of_genes":246,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["GDD1"],"biotype":"protein_coding","hgnc_id":"HGNC:27337","gene_name":"anoctamin 5","omim_gene":["608662"],"alias_name":null,"gene_symbol":"ANO5","hgnc_symbol":"ANO5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:22214722-22304903","ensembl_id":"ENSG00000171714"}},"GRch38":{"90":{"location":"11:22193176-22283357","ensembl_id":"ENSG00000171714"}}},"hgnc_date_symbol_changed":"2008-08-28"},"entity_type":"gene","entity_name":"ANO5","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["20096397"],"evidence":["NHS GMS","Yorkshire and North East GLH","Expert Review Green","Eligibility statement prior genetic testing","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen"],"phenotypes":["Gnathodiaphyseal dysplasia, 166260","Muscular dystrophy, limb-girdle, type 2L, 611307","Miyoshi muscular dystrophy 3, 613319","Limb-girdle muscular dystrophy","Limb-Girdle Muscular Dystrophy, Recessive","Limb-girdle muscular dystrophy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":185,"hash_id":"55b7a65322c1fc05fc7a1869","name":"Limb girdle muscular dystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"1.89","version_created":"2019-06-20T15:15:12.994579Z","relevant_disorders":[],"stats":{"number_of_genes":84,"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)"}]}},{"gene_data":{"alias":["GDD1"],"biotype":"protein_coding","hgnc_id":"HGNC:27337","gene_name":"anoctamin 5","omim_gene":["608662"],"alias_name":null,"gene_symbol":"ANO5","hgnc_symbol":"ANO5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:22214722-22304903","ensembl_id":"ENSG00000171714"}},"GRch38":{"90":{"location":"11:22193176-22283357","ensembl_id":"ENSG00000171714"}}},"hgnc_date_symbol_changed":"2008-08-28"},"entity_type":"gene","entity_name":"ANO5","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","","Emory Genetics Laboratory"],"phenotypes":["Gnatodiaphyseal dysplasia","Osteogenesis Imperfecta and Decreased Bone Density","skeletal dysplasias","skeletal dysplasias","Disproportionate Short Stature"],"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":["GDD1"],"biotype":"protein_coding","hgnc_id":"HGNC:27337","gene_name":"anoctamin 5","omim_gene":["608662"],"alias_name":null,"gene_symbol":"ANO5","hgnc_symbol":"ANO5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:22214722-22304903","ensembl_id":"ENSG00000171714"}},"GRch38":{"90":{"location":"11:22193176-22283357","ensembl_id":"ENSG00000171714"}}},"hgnc_date_symbol_changed":"2008-08-28"},"entity_type":"gene","entity_name":"ANO5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["MIYOSHI MUSCULAR DYSTROPHY TYPE 3","GNATHODIAPHYSEAL DYSPLASIA"],"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":["GDD1"],"biotype":"protein_coding","hgnc_id":"HGNC:27337","gene_name":"anoctamin 5","omim_gene":["608662"],"alias_name":null,"gene_symbol":"ANO5","hgnc_symbol":"ANO5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:22214722-22304903","ensembl_id":"ENSG00000171714"}},"GRch38":{"90":{"location":"11:22193176-22283357","ensembl_id":"ENSG00000171714"}}},"hgnc_date_symbol_changed":"2008-08-28"},"entity_type":"gene","entity_name":"ANO5","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Emory Genetics Laboratory"],"phenotypes":["Osteogenesis Imperfecta and Decreased Bone Density","skeletal dysplasias","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":["GDD1"],"biotype":"protein_coding","hgnc_id":"HGNC:27337","gene_name":"anoctamin 5","omim_gene":["608662"],"alias_name":null,"gene_symbol":"ANO5","hgnc_symbol":"ANO5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:22214722-22304903","ensembl_id":"ENSG00000171714"}},"GRch38":{"90":{"location":"11:22193176-22283357","ensembl_id":"ENSG00000171714"}}},"hgnc_date_symbol_changed":"2008-08-28"},"entity_type":"gene","entity_name":"ANO5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","DD-Gene2Phenotype"],"phenotypes":["GNATHODIAPHYSEAL DYSPLASIA 166260","LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L 611307","MIYOSHI MUSCULAR DYSTROPHY TYPE 3 613319"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["watchlist"],"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":["GDD1"],"biotype":"protein_coding","hgnc_id":"HGNC:27337","gene_name":"anoctamin 5","omim_gene":["608662"],"alias_name":null,"gene_symbol":"ANO5","hgnc_symbol":"ANO5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:22214722-22304903","ensembl_id":"ENSG00000171714"}},"GRch38":{"90":{"location":"11:22193176-22283357","ensembl_id":"ENSG00000171714"}}},"hgnc_date_symbol_changed":"2008-08-28"},"entity_type":"gene","entity_name":"ANO5","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments ","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Gnathodiaphyseal dysplasia, 166260","Muscular dystrophy, limb-girdle, type 2L, 611307","Miyoshi muscular dystrophy 3, 613319"],"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"}]}}]}
