{"count":11,"next":null,"previous":null,"results":[{"gene_data":{"alias":["GlcAT-I"],"biotype":"protein_coding","hgnc_id":"HGNC:923","gene_name":"beta-1,3-glucuronyltransferase 3","omim_gene":["606374"],"alias_name":["glucuronosyltransferase I","galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"],"gene_symbol":"B3GAT3","hgnc_symbol":"B3GAT3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:62382768-62389647","ensembl_id":"ENSG00000149541"}},"GRch38":{"90":{"location":"11:62615296-62622175","ensembl_id":"ENSG00000149541"}}},"hgnc_date_symbol_changed":"2000-01-07"},"entity_type":"gene","entity_name":"B3GAT3","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","ClinGen"],"phenotypes":["Familial thoracic aortic aneurysm and aortic dissection"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":210,"hash_id":"594be3878f62037ee3e7e72f","name":"ClinGen_Familial thoracic aortic aneurysm and aortic dissection","disease_group":"","disease_sub_group":"","status":"public","version":"0.10","version_created":"2017-11-05T02:37:20.232365Z","relevant_disorders":[],"stats":{"number_of_genes":53,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"ClinGen Curated genes","slug":"clingen-curated-genes","description":"ClinGen Curated genes"}]}},{"gene_data":{"alias":["GlcAT-I"],"biotype":"protein_coding","hgnc_id":"HGNC:923","gene_name":"beta-1,3-glucuronyltransferase 3","omim_gene":["606374"],"alias_name":["glucuronosyltransferase I","galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"],"gene_symbol":"B3GAT3","hgnc_symbol":"B3GAT3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:62382768-62389647","ensembl_id":"ENSG00000149541"}},"GRch38":{"90":{"location":"11:62615296-62622175","ensembl_id":"ENSG00000149541"}}},"hgnc_date_symbol_changed":"2000-01-07"},"entity_type":"gene","entity_name":"B3GAT3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["21763480","27871226","26086840"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Literature","Emory Genetics Laboratory"],"phenotypes":["Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600","B3GAT3-CDG (Disorders of protein O-glycosylation,  O-mannosylglycan synthesis deficiencies)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":25,"hash_id":"58346b8b8f62036225ca8a7d","name":"Congenital disorders of glycosylation","disease_group":"Metabolic disorders","disease_sub_group":"Specific metabolic abnormalities","status":"public","version":"1.32","version_created":"2019-10-07T16:15:06.398101Z","relevant_disorders":["Congential disorders of glycosylation"],"stats":{"number_of_genes":100,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["GlcAT-I"],"biotype":"protein_coding","hgnc_id":"HGNC:923","gene_name":"beta-1,3-glucuronyltransferase 3","omim_gene":["606374"],"alias_name":["glucuronosyltransferase I","galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"],"gene_symbol":"B3GAT3","hgnc_symbol":"B3GAT3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:62382768-62389647","ensembl_id":"ENSG00000149541"}},"GRch38":{"90":{"location":"11:62615296-62622175","ensembl_id":"ENSG00000149541"}}},"hgnc_date_symbol_changed":"2000-01-07"},"entity_type":"gene","entity_name":"B3GAT3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","","Radboud University Medical Center, Nijmegen"],"phenotypes":["Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600","Larsen alike phenotype  (skd incl)"],"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":["GlcAT-I"],"biotype":"protein_coding","hgnc_id":"HGNC:923","gene_name":"beta-1,3-glucuronyltransferase 3","omim_gene":["606374"],"alias_name":["glucuronosyltransferase I","galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"],"gene_symbol":"B3GAT3","hgnc_symbol":"B3GAT3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:62382768-62389647","ensembl_id":"ENSG00000149541"}},"GRch38":{"90":{"location":"11:62615296-62622175","ensembl_id":"ENSG00000149541"}}},"hgnc_date_symbol_changed":"2000-01-07"},"entity_type":"gene","entity_name":"B3GAT3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","Literature"],"phenotypes":["B3GAT3-CDG (Disorders of protein O-glycosylation,  O-mannosylglycan synthesis deficiencies)","Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600","B3GAT3-CDG (Disorders of protein O-glycosylation,  O-mannosylglycan synthesis deficiencies)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":302,"hash_id":"5763f1518f620350a22bccdb","name":"Undiagnosed metabolic disorders","disease_group":"Metabolic disorders","disease_sub_group":"Specific metabolic abnormalities","status":"public","version":"1.373","version_created":"2019-10-08T14:47:17.153678Z","relevant_disorders":["Undiagnosed Metabolic Panel"],"stats":{"number_of_genes":744,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["GlcAT-I"],"biotype":"protein_coding","hgnc_id":"HGNC:923","gene_name":"beta-1,3-glucuronyltransferase 3","omim_gene":["606374"],"alias_name":["glucuronosyltransferase I","galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"],"gene_symbol":"B3GAT3","hgnc_symbol":"B3GAT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:62382768-62389647","ensembl_id":"ENSG00000149541"}},"GRch38":{"90":{"location":"11:62615296-62622175","ensembl_id":"ENSG00000149541"}}},"hgnc_date_symbol_changed":"2000-01-07"},"entity_type":"gene","entity_name":"B3GAT3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600","B3GAT3-CDG (Disorders of protein O-glycosylation,  O-mannosylglycan synthesis deficiencies)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":467,"hash_id":null,"name":"Inborn errors of metabolism","disease_group":"","disease_sub_group":"","status":"public","version":"1.348","version_created":"2019-10-09T08:19:52.386941Z","relevant_disorders":["Likely inborn error of metabolism - targeted testing not possible"],"stats":{"number_of_genes":877,"number_of_strs":2,"number_of_regions":1},"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":["GlcAT-I"],"biotype":"protein_coding","hgnc_id":"HGNC:923","gene_name":"beta-1,3-glucuronyltransferase 3","omim_gene":["606374"],"alias_name":["glucuronosyltransferase I","galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"],"gene_symbol":"B3GAT3","hgnc_symbol":"B3GAT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:62382768-62389647","ensembl_id":"ENSG00000149541"}},"GRch38":{"90":{"location":"11:62615296-62622175","ensembl_id":"ENSG00000149541"}}},"hgnc_date_symbol_changed":"2000-01-07"},"entity_type":"gene","entity_name":"B3GAT3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE Additional Gene List","Expert Review Green"],"phenotypes":["Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600"],"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":["GlcAT-I"],"biotype":"protein_coding","hgnc_id":"HGNC:923","gene_name":"beta-1,3-glucuronyltransferase 3","omim_gene":["606374"],"alias_name":["glucuronosyltransferase I","galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"],"gene_symbol":"B3GAT3","hgnc_symbol":"B3GAT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:62382768-62389647","ensembl_id":"ENSG00000149541"}},"GRch38":{"90":{"location":"11:62615296-62622175","ensembl_id":"ENSG00000149541"}}},"hgnc_date_symbol_changed":"2000-01-07"},"entity_type":"gene","entity_name":"B3GAT3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["28771243"],"evidence":["Expert Review Amber","NHS GMS"],"phenotypes":["Craniosynostosis and bone fragility"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":168,"hash_id":"55b605f722c1fc05fd2345af","name":"Craniosynostosis","disease_group":"Skeletal disorders","disease_sub_group":"Craniosynostosis syndromes","status":"public","version":"2.0","version_created":"2019-09-17T13:00:09.542482Z","relevant_disorders":["Craniosynostosis syndromes","Craniosynostosis syndromes phenotypes","Rare syndromic craniosynostosis or isolated multisuture synostosis","R100"],"stats":{"number_of_genes":114,"number_of_strs":0,"number_of_regions":2},"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."}]}},{"gene_data":{"alias":["GlcAT-I"],"biotype":"protein_coding","hgnc_id":"HGNC:923","gene_name":"beta-1,3-glucuronyltransferase 3","omim_gene":["606374"],"alias_name":["glucuronosyltransferase I","galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"],"gene_symbol":"B3GAT3","hgnc_symbol":"B3GAT3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:62382768-62389647","ensembl_id":"ENSG00000149541"}},"GRch38":{"90":{"location":"11:62615296-62622175","ensembl_id":"ENSG00000149541"}}},"hgnc_date_symbol_changed":"2000-01-07"},"entity_type":"gene","entity_name":"B3GAT3","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Radboud University Medical Center, Nijmegen"],"phenotypes":["Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600"],"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":["GlcAT-I"],"biotype":"protein_coding","hgnc_id":"HGNC:923","gene_name":"beta-1,3-glucuronyltransferase 3","omim_gene":["606374"],"alias_name":["glucuronosyltransferase I","galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"],"gene_symbol":"B3GAT3","hgnc_symbol":"B3GAT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:62382768-62389647","ensembl_id":"ENSG00000149541"}},"GRch38":{"90":{"location":"11:62615296-62622175","ensembl_id":"ENSG00000149541"}}},"hgnc_date_symbol_changed":"2000-01-07"},"entity_type":"gene","entity_name":"B3GAT3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["31438591"],"evidence":["DD-Gene2Phenotype","Expert Review Red"],"phenotypes":["MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS 245600"],"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":["GlcAT-I"],"biotype":"protein_coding","hgnc_id":"HGNC:923","gene_name":"beta-1,3-glucuronyltransferase 3","omim_gene":["606374"],"alias_name":["glucuronosyltransferase I","galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"],"gene_symbol":"B3GAT3","hgnc_symbol":"B3GAT3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:62382768-62389647","ensembl_id":"ENSG00000149541"}},"GRch38":{"90":{"location":"11:62615296-62622175","ensembl_id":"ENSG00000149541"}}},"hgnc_date_symbol_changed":"2000-01-07"},"entity_type":"gene","entity_name":"B3GAT3","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red"],"phenotypes":["MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS","JDSCD"],"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":["GlcAT-I"],"biotype":"protein_coding","hgnc_id":"HGNC:923","gene_name":"beta-1,3-glucuronyltransferase 3","omim_gene":["606374"],"alias_name":["glucuronosyltransferase I","galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"],"gene_symbol":"B3GAT3","hgnc_symbol":"B3GAT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:62382768-62389647","ensembl_id":"ENSG00000149541"}},"GRch38":{"90":{"location":"11:62615296-62622175","ensembl_id":"ENSG00000149541"}}},"hgnc_date_symbol_changed":"2000-01-07"},"entity_type":"gene","entity_name":"B3GAT3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London South GLH","Expert Review Green"],"phenotypes":["Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600","B3GAT3-CDG (Disorders of protein O-glycosylation,  O-mannosylglycan synthesis deficiencies)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":749,"hash_id":null,"name":"Cardiomyopathies - including childhood onset","disease_group":"","disease_sub_group":"","status":"public","version":"0.13","version_created":"2019-09-16T12:01:25.928956Z","relevant_disorders":["Paediatric or syndromic cardiomyopathy","R135"],"stats":{"number_of_genes":180,"number_of_strs":0,"number_of_regions":1},"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":"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."}]}}]}
