{"count":8,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1967","gene_name":"cholinergic receptor nicotinic gamma subunit","omim_gene":["100730"],"alias_name":["acetylcholine receptor, nicotinic, gamma (muscle)"],"gene_symbol":"CHRNG","hgnc_symbol":"CHRNG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:233404437-233411113","ensembl_id":"ENSG00000196811"}},"GRch38":{"90":{"location":"2:232539727-232546403","ensembl_id":"ENSG00000196811"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CHRNG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25411939","PMID:16826520 (Hoffmann et al., 2006) conclude that Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. AChRs have five subunits including two alpha, one beta and one delta. For the fifth subunit, gamma subunits are present in early development (switching to epsilon subunits in late fetal development).","22167768","8040310","27245440","16826531"],"evidence":["Expert Review Green"],"phenotypes":["escobar syndrome","Neonatal congenital myasthenia","multiple pterygium syndrome/MPS","Myasthenia gravis, neonatal transient","fetal akinesia deformation sequence syndrome/FADS"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:1967","gene_name":"cholinergic receptor nicotinic gamma subunit","omim_gene":["100730"],"alias_name":["acetylcholine receptor, nicotinic, gamma (muscle)"],"gene_symbol":"CHRNG","hgnc_symbol":"CHRNG","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:233404437-233411113","ensembl_id":"ENSG00000196811"}},"GRch38":{"90":{"location":"2:232539727-232546403","ensembl_id":"ENSG00000196811"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CHRNG","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["16826520,16826531"],"evidence":["Expert Review Green","UKGTN","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Expert list"],"phenotypes":["Escobar syndrome 265000","Multiple pterygium syndrome, lethal type 253290","Myasthenia gravis, neonatal transient (2)"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:1967","gene_name":"cholinergic receptor nicotinic gamma subunit","omim_gene":["100730"],"alias_name":["acetylcholine receptor, nicotinic, gamma (muscle)"],"gene_symbol":"CHRNG","hgnc_symbol":"CHRNG","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:233404437-233411113","ensembl_id":"ENSG00000196811"}},"GRch38":{"90":{"location":"2:232539727-232546403","ensembl_id":"ENSG00000196811"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CHRNG","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["16826531","22167768","27245440","25411939","8040310","16826520"],"evidence":["NHS GMS","Wessex and West Midlands GLH","Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Myasthenia gravis, neonatal transient","Neonatal congenital myasthenia","escobar syndrome","fetal akinesia deformation sequence syndrome/FADS","multiple pterygium syndrome/MPS"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":232,"hash_id":"553f94c2bb5a1616e5ed459c","name":"Congenital myaesthenic syndrome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"1.52","version_created":"2019-08-07T14:24:09.650638Z","relevant_disorders":["Congenital myaesthenia","Congenital myasthenia"],"stats":{"number_of_genes":35,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:1967","gene_name":"cholinergic receptor nicotinic gamma subunit","omim_gene":["100730"],"alias_name":["acetylcholine receptor, nicotinic, gamma (muscle)"],"gene_symbol":"CHRNG","hgnc_symbol":"CHRNG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:233404437-233411113","ensembl_id":"ENSG00000196811"}},"GRch38":{"90":{"location":"2:232539727-232546403","ensembl_id":"ENSG00000196811"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CHRNG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["Escobar syndrome, 265000","Multiple pterygium syndrome, lethal type, 253290"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":547,"hash_id":null,"name":"Neuromuscular arthrogryposis","disease_group":"","disease_sub_group":"","status":"public","version":"0.19","version_created":"2019-08-01T14:55:50.898576Z","relevant_disorders":[],"stats":{"number_of_genes":40,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:1967","gene_name":"cholinergic receptor nicotinic gamma subunit","omim_gene":["100730"],"alias_name":["acetylcholine receptor, nicotinic, gamma (muscle)"],"gene_symbol":"CHRNG","hgnc_symbol":"CHRNG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:233404437-233411113","ensembl_id":"ENSG00000196811"}},"GRch38":{"90":{"location":"2:232539727-232546403","ensembl_id":"ENSG00000196811"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CHRNG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:1967","gene_name":"cholinergic receptor nicotinic gamma subunit","omim_gene":["100730"],"alias_name":["acetylcholine receptor, nicotinic, gamma (muscle)"],"gene_symbol":"CHRNG","hgnc_symbol":"CHRNG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:233404437-233411113","ensembl_id":"ENSG00000196811"}},"GRch38":{"90":{"location":"2:232539727-232546403","ensembl_id":"ENSG00000196811"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CHRNG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16826520"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT 265000"],"mode_of_inheritance":"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:1967","gene_name":"cholinergic receptor nicotinic gamma subunit","omim_gene":["100730"],"alias_name":["acetylcholine receptor, nicotinic, gamma (muscle)"],"gene_symbol":"CHRNG","hgnc_symbol":"CHRNG","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:233404437-233411113","ensembl_id":"ENSG00000196811"}},"GRch38":{"90":{"location":"2:232539727-232546403","ensembl_id":"ENSG00000196811"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CHRNG","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["16826520","22167768","27843868"],"evidence":["UKGTN","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Expert list"],"phenotypes":["Escobar syndrome, 265000","MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE","Multiple pterygium syndrome, lethal type, 253290","PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:1967","gene_name":"cholinergic receptor nicotinic gamma subunit","omim_gene":["100730"],"alias_name":["acetylcholine receptor, nicotinic, gamma (muscle)"],"gene_symbol":"CHRNG","hgnc_symbol":"CHRNG","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:233404437-233411113","ensembl_id":"ENSG00000196811"}},"GRch38":{"90":{"location":"2:232539727-232546403","ensembl_id":"ENSG00000196811"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CHRNG","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Myasthenia gravis, neonatal transient","Escobar syndrome, 265000","Multiple pterygium syndrome, lethal type, 253290"],"mode_of_inheritance":"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"}]}}]}