{"count":16,"next":null,"previous":null,"results":[{"gene_data":{"alias":["HD4ST","D4ST-1"],"biotype":"protein_coding","hgnc_id":"HGNC:24464","gene_name":"carbohydrate sulfotransferase 14","omim_gene":["608429"],"alias_name":null,"gene_symbol":"CHST14","hgnc_symbol":"CHST14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:40763160-40765353","ensembl_id":"ENSG00000169105"}},"GRch38":{"90":{"location":"15:40470998-40474571","ensembl_id":"ENSG00000169105"}}},"hgnc_date_symbol_changed":"2007-03-27"},"entity_type":"gene","entity_name":"CHST14","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":105,"hash_id":"572c908e8f62036eed0a39c8","name":"Pneumothorax - familial","disease_group":"Respiratory disorders","disease_sub_group":"Structural lung disorders","status":"public","version":"1.18","version_created":"2019-09-27T18:57:12.249816Z","relevant_disorders":["Familial Pneumothorax","Familial Primary Spontaneous Pneumothorax","R190"],"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":["HD4ST","D4ST-1"],"biotype":"protein_coding","hgnc_id":"HGNC:24464","gene_name":"carbohydrate sulfotransferase 14","omim_gene":["608429"],"alias_name":null,"gene_symbol":"CHST14","hgnc_symbol":"CHST14","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:40763160-40765353","ensembl_id":"ENSG00000169105"}},"GRch38":{"90":{"location":"15:40470998-40474571","ensembl_id":"ENSG00000169105"}}},"hgnc_date_symbol_changed":"2007-03-27"},"entity_type":"gene","entity_name":"CHST14","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26646600"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Literature","Emory Genetics Laboratory"],"phenotypes":["Ehlers-Danlos syndrome, musculocontractural type 1 601776","CHST14-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":["HD4ST","D4ST-1"],"biotype":"protein_coding","hgnc_id":"HGNC:24464","gene_name":"carbohydrate sulfotransferase 14","omim_gene":["608429"],"alias_name":null,"gene_symbol":"CHST14","hgnc_symbol":"CHST14","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:40763160-40765353","ensembl_id":"ENSG00000169105"}},"GRch38":{"90":{"location":"15:40470998-40474571","ensembl_id":"ENSG00000169105"}}},"hgnc_date_symbol_changed":"2007-03-27"},"entity_type":"gene","entity_name":"CHST14","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BRIDGE consortium (NIHRBR-RD)"],"phenotypes":["Ehlers-Danlos syndrome, musculocontractural type"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":175,"hash_id":"5763f32a8f620350a22bccde","name":"Inherited bleeding disorders","disease_group":"Haematological and immunological disorders","disease_sub_group":"Haemostasis disorders","status":"public","version":"1.156","version_created":"2019-08-09T13:55:23.938344Z","relevant_disorders":["Inherited platelet disorders","Monogenic thrombophilia","Inherited bleeding and or platelet disorders","Unprovoked Thrombosis before 40","Monogenic venous thrombosis"],"stats":{"number_of_genes":119,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["HD4ST","D4ST-1"],"biotype":"protein_coding","hgnc_id":"HGNC:24464","gene_name":"carbohydrate sulfotransferase 14","omim_gene":["608429"],"alias_name":null,"gene_symbol":"CHST14","hgnc_symbol":"CHST14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:40763160-40765353","ensembl_id":"ENSG00000169105"}},"GRch38":{"90":{"location":"15:40470998-40474571","ensembl_id":"ENSG00000169105"}}},"hgnc_date_symbol_changed":"2007-03-27"},"entity_type":"gene","entity_name":"CHST14","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","South West GLH","South West GLH"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":700,"hash_id":null,"name":"Thoracic aortic aneurysm and dissection","disease_group":"","disease_sub_group":"","status":"public","version":"0.32","version_created":"2019-10-02T11:56:22.695639Z","relevant_disorders":["R125"],"stats":{"number_of_genes":62,"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":["HD4ST","D4ST-1"],"biotype":"protein_coding","hgnc_id":"HGNC:24464","gene_name":"carbohydrate sulfotransferase 14","omim_gene":["608429"],"alias_name":null,"gene_symbol":"CHST14","hgnc_symbol":"CHST14","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:40763160-40765353","ensembl_id":"ENSG00000169105"}},"GRch38":{"90":{"location":"15:40470998-40474571","ensembl_id":"ENSG00000169105"}}},"hgnc_date_symbol_changed":"2007-03-27"},"entity_type":"gene","entity_name":"CHST14","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["South West GLH","Expert list"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":1,"hash_id":"5596735822c1fc4f7d26e96d","name":"Thoracic aortic aneurysm or dissection","disease_group":"Cardiovascular disorders","disease_sub_group":"Connective tissue disorders and aortopathies","status":"public","version":"1.103","version_created":"2019-10-02T10:51:03.815181Z","relevant_disorders":["Familial retinal arteriolar tortuosity","FTAAD","Familial Thoracic Aortic Aneurysm Disease"],"stats":{"number_of_genes":63,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["HD4ST","D4ST-1"],"biotype":"protein_coding","hgnc_id":"HGNC:24464","gene_name":"carbohydrate sulfotransferase 14","omim_gene":["608429"],"alias_name":null,"gene_symbol":"CHST14","hgnc_symbol":"CHST14","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:40763160-40765353","ensembl_id":"ENSG00000169105"}},"GRch38":{"90":{"location":"15:40470998-40474571","ensembl_id":"ENSG00000169105"}}},"hgnc_date_symbol_changed":"2007-03-27"},"entity_type":"gene","entity_name":"CHST14","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["20004762, 20842734,"],"evidence":["Expert Review Green","UKGTN","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","Expert list"],"phenotypes":["Ehlers-Danlos syndrome, musculocontractural type 1 601776"],"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":["HD4ST","D4ST-1"],"biotype":"protein_coding","hgnc_id":"HGNC:24464","gene_name":"carbohydrate sulfotransferase 14","omim_gene":["608429"],"alias_name":null,"gene_symbol":"CHST14","hgnc_symbol":"CHST14","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:40763160-40765353","ensembl_id":"ENSG00000169105"}},"GRch38":{"90":{"location":"15:40470998-40474571","ensembl_id":"ENSG00000169105"}}},"hgnc_date_symbol_changed":"2007-03-27"},"entity_type":"gene","entity_name":"CHST14","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","Radboud University Medical Center, Nijmegen","Expert list","UKGTN","Emory Genetics Laboratory",""],"phenotypes":["Ehlers-Danlos syndrome, musculocontractural type 1 601776"],"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":["HD4ST","D4ST-1"],"biotype":"protein_coding","hgnc_id":"HGNC:24464","gene_name":"carbohydrate sulfotransferase 14","omim_gene":["608429"],"alias_name":null,"gene_symbol":"CHST14","hgnc_symbol":"CHST14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:40763160-40765353","ensembl_id":"ENSG00000169105"}},"GRch38":{"90":{"location":"15:40470998-40474571","ensembl_id":"ENSG00000169105"}}},"hgnc_date_symbol_changed":"2007-03-27"},"entity_type":"gene","entity_name":"CHST14","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["20533528","26373698","25703627"],"evidence":["Expert Review Amber","NHS GMS","Wessex and West Midlands GLH"],"phenotypes":["601776 Ehlers-Danlos syndrome, musculocontractural type 1"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":545,"hash_id":null,"name":"Bleeding and platelet disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.78","version_created":"2019-09-23T11:07:54.788299Z","relevant_disorders":["R90"],"stats":{"number_of_genes":111,"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)"}]}},{"gene_data":{"alias":["HD4ST","D4ST-1"],"biotype":"protein_coding","hgnc_id":"HGNC:24464","gene_name":"carbohydrate sulfotransferase 14","omim_gene":["608429"],"alias_name":null,"gene_symbol":"CHST14","hgnc_symbol":"CHST14","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:40763160-40765353","ensembl_id":"ENSG00000169105"}},"GRch38":{"90":{"location":"15:40470998-40474571","ensembl_id":"ENSG00000169105"}}},"hgnc_date_symbol_changed":"2007-03-27"},"entity_type":"gene","entity_name":"CHST14","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","Literature"],"phenotypes":["CHST14-CDG (Disorders of protein O-glycosylation,  O-mannosylglycan synthesis deficiencies)","Ehlers-Danlos syndrome, musculocontractural type 1 601776","CHST14-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":["HD4ST","D4ST-1"],"biotype":"protein_coding","hgnc_id":"HGNC:24464","gene_name":"carbohydrate sulfotransferase 14","omim_gene":["608429"],"alias_name":null,"gene_symbol":"CHST14","hgnc_symbol":"CHST14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:40763160-40765353","ensembl_id":"ENSG00000169105"}},"GRch38":{"90":{"location":"15:40470998-40474571","ensembl_id":"ENSG00000169105"}}},"hgnc_date_symbol_changed":"2007-03-27"},"entity_type":"gene","entity_name":"CHST14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Ehlers-Danlos syndrome, musculocontractural type 1 601776","CHST14-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":["HD4ST","D4ST-1"],"biotype":"protein_coding","hgnc_id":"HGNC:24464","gene_name":"carbohydrate sulfotransferase 14","omim_gene":["608429"],"alias_name":null,"gene_symbol":"CHST14","hgnc_symbol":"CHST14","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:40763160-40765353","ensembl_id":"ENSG00000169105"}},"GRch38":{"90":{"location":"15:40470998-40474571","ensembl_id":"ENSG00000169105"}}},"hgnc_date_symbol_changed":"2007-03-27"},"entity_type":"gene","entity_name":"CHST14","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["28306229","28306225","9084938","23704329","10766984","11666007","11370633","12508273","16158441","20503305","20842734","21744491","22581468","22987394","22407744","25703627","26373698","26872206"],"evidence":["NHS GMS","Expert Review","Literature","Radboud University Medical Center, Nijmegen","Expert list","Emory Genetics Laboratory","Expert Review Green"],"phenotypes":["Ehlers Danlos syndrome, musculocontractural type 1, 601776","EDSMC1","Musculocontractural EDS","mcEDS-CHST14","Adducted thumb-club foot syndrome (ATCS)","EDS Kosho type (EDS-KT)","D4ST1-deficient EDS"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":53,"hash_id":"588728f38f62030cf7152165","name":"Ehlers Danlos syndromes","disease_group":"Rheumatological disorders","disease_sub_group":"Connective tissues disorders","status":"public","version":"2.1","version_created":"2019-10-09T07:04:44.655768Z","relevant_disorders":["Classical Ehlers Danlos Syndrome","Classical Ehlers-Danlos Syndrome","Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense)","Ehlers-Danlos syndrome type 3","Kyphoscoliotic Ehlers-Danlos syndrome","EDS","Ehlers-Danlos syndromes","R101"],"stats":{"number_of_genes":75,"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":["HD4ST","D4ST-1"],"biotype":"protein_coding","hgnc_id":"HGNC:24464","gene_name":"carbohydrate sulfotransferase 14","omim_gene":["608429"],"alias_name":null,"gene_symbol":"CHST14","hgnc_symbol":"CHST14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:40763160-40765353","ensembl_id":"ENSG00000169105"}},"GRch38":{"90":{"location":"15:40470998-40474571","ensembl_id":"ENSG00000169105"}}},"hgnc_date_symbol_changed":"2007-03-27"},"entity_type":"gene","entity_name":"CHST14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE"],"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":["HD4ST","D4ST-1"],"biotype":"protein_coding","hgnc_id":"HGNC:24464","gene_name":"carbohydrate sulfotransferase 14","omim_gene":["608429"],"alias_name":null,"gene_symbol":"CHST14","hgnc_symbol":"CHST14","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:40763160-40765353","ensembl_id":"ENSG00000169105"}},"GRch38":{"90":{"location":"15:40470998-40474571","ensembl_id":"ENSG00000169105"}}},"hgnc_date_symbol_changed":"2007-03-27"},"entity_type":"gene","entity_name":"CHST14","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":["HD4ST","D4ST-1"],"biotype":"protein_coding","hgnc_id":"HGNC:24464","gene_name":"carbohydrate sulfotransferase 14","omim_gene":["608429"],"alias_name":null,"gene_symbol":"CHST14","hgnc_symbol":"CHST14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:40763160-40765353","ensembl_id":"ENSG00000169105"}},"GRch38":{"90":{"location":"15:40470998-40474571","ensembl_id":"ENSG00000169105"}}},"hgnc_date_symbol_changed":"2007-03-27"},"entity_type":"gene","entity_name":"CHST14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE 601776"],"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":["HD4ST","D4ST-1"],"biotype":"protein_coding","hgnc_id":"HGNC:24464","gene_name":"carbohydrate sulfotransferase 14","omim_gene":["608429"],"alias_name":null,"gene_symbol":"CHST14","hgnc_symbol":"CHST14","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:40763160-40765353","ensembl_id":"ENSG00000169105"}},"GRch38":{"90":{"location":"15:40470998-40474571","ensembl_id":"ENSG00000169105"}}},"hgnc_date_symbol_changed":"2007-03-27"},"entity_type":"gene","entity_name":"CHST14","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1","EDSMC1"],"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":["HD4ST","D4ST-1"],"biotype":"protein_coding","hgnc_id":"HGNC:24464","gene_name":"carbohydrate sulfotransferase 14","omim_gene":["608429"],"alias_name":null,"gene_symbol":"CHST14","hgnc_symbol":"CHST14","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:40763160-40765353","ensembl_id":"ENSG00000169105"}},"GRch38":{"90":{"location":"15:40470998-40474571","ensembl_id":"ENSG00000169105"}}},"hgnc_date_symbol_changed":"2007-03-27"},"entity_type":"gene","entity_name":"CHST14","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Gene2Phenotype confirmed gene with ID HPO"],"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"}]}}]}