{"count":12,"next":null,"previous":null,"results":[{"gene_data":{"alias":["KIAA0472","DustyPK","RIP5"],"biotype":"protein_coding","hgnc_id":"HGNC:29043","gene_name":"dual serine/threonine and tyrosine protein kinase","omim_gene":["612666"],"alias_name":null,"gene_symbol":"DSTYK","hgnc_symbol":"DSTYK","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:205111632-205180727","ensembl_id":"ENSG00000133059"}},"GRch38":{"90":{"location":"1:205142505-205211566","ensembl_id":"ENSG00000133059"}}},"hgnc_date_symbol_changed":"2008-12-18"},"entity_type":"gene","entity_name":"DSTYK","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["{Congenital anomalies of kidney and urinary tract, susceptibility to}\t610805"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":156,"hash_id":"5693974122c1fc251660fb1f","name":"Unexplained kidney failure in young people","disease_group":"Renal and urinary tract disorders","disease_sub_group":"Disorders of function","status":"public","version":"1.73","version_created":"2019-07-17T16:13:42.477129Z","relevant_disorders":["Familial IgA nephropathy and IgA vasculitis","End-stage renal disease - childhood onset"],"stats":{"number_of_genes":166,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["KIAA0472","DustyPK","RIP5"],"biotype":"protein_coding","hgnc_id":"HGNC:29043","gene_name":"dual serine/threonine and tyrosine protein kinase","omim_gene":["612666"],"alias_name":null,"gene_symbol":"DSTYK","hgnc_symbol":"DSTYK","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:205111632-205180727","ensembl_id":"ENSG00000133059"}},"GRch38":{"90":{"location":"1:205142505-205211566","ensembl_id":"ENSG00000133059"}}},"hgnc_date_symbol_changed":"2008-12-18"},"entity_type":"gene","entity_name":"DSTYK","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["28157540"],"evidence":["Other"],"phenotypes":["Spastic paraplegia 23, 270750"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder-effect"],"panel":{"id":165,"hash_id":"55ad019f22c1fc7042059038","name":"Hereditary spastic paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.205","version_created":"2019-06-20T15:15:08.031188Z","relevant_disorders":[],"stats":{"number_of_genes":109,"number_of_strs":10,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["KIAA0472","DustyPK","RIP5"],"biotype":"protein_coding","hgnc_id":"HGNC:29043","gene_name":"dual serine/threonine and tyrosine protein kinase","omim_gene":["612666"],"alias_name":null,"gene_symbol":"DSTYK","hgnc_symbol":"DSTYK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:205111632-205180727","ensembl_id":"ENSG00000133059"}},"GRch38":{"90":{"location":"1:205142505-205211566","ensembl_id":"ENSG00000133059"}}},"hgnc_date_symbol_changed":"2008-12-18"},"entity_type":"gene","entity_name":"DSTYK","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["28157540"],"evidence":["Expert Review Amber","Yorkshire and North East GLH","NHS GMS","London North GLH","Other"],"phenotypes":["Spastic paraplegia 23, 270750","ongenital anomalies of kidney and urinary tract 1, 610805, AD","Spastic paraplegia 23, 270750, AR"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":568,"hash_id":null,"name":"Hereditary spastic paraplegia - childhood onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.179","version_created":"2019-09-30T12:40:08.803161Z","relevant_disorders":["Childhood onset hereditary spastic paraplegia;R61"],"stats":{"number_of_genes":98,"number_of_strs":10,"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":["KIAA0472","DustyPK","RIP5"],"biotype":"protein_coding","hgnc_id":"HGNC:29043","gene_name":"dual serine/threonine and tyrosine protein kinase","omim_gene":["612666"],"alias_name":null,"gene_symbol":"DSTYK","hgnc_symbol":"DSTYK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:205111632-205180727","ensembl_id":"ENSG00000133059"}},"GRch38":{"90":{"location":"1:205142505-205211566","ensembl_id":"ENSG00000133059"}}},"hgnc_date_symbol_changed":"2008-12-18"},"entity_type":"gene","entity_name":"DSTYK","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["28157540"],"evidence":["Expert Review Amber","Yorkshire and North East GLH","South West GLH","NHS GMS","London North GLH"],"phenotypes":["Spastic paraplegia 23, 270750, AR","Spastic paraplegia 23, 270750","Congenital anomalies of kidney and urinary tract 1, 610805, AD"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":567,"hash_id":null,"name":"Hereditary spastic paraplegia - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"0.156","version_created":"2019-09-30T12:38:14.427158Z","relevant_disorders":["R60"],"stats":{"number_of_genes":97,"number_of_strs":10,"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":["KIAA0472","DustyPK","RIP5"],"biotype":"protein_coding","hgnc_id":"HGNC:29043","gene_name":"dual serine/threonine and tyrosine protein kinase","omim_gene":["612666"],"alias_name":null,"gene_symbol":"DSTYK","hgnc_symbol":"DSTYK","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:205111632-205180727","ensembl_id":"ENSG00000133059"}},"GRch38":{"90":{"location":"1:205142505-205211566","ensembl_id":"ENSG00000133059"}}},"hgnc_date_symbol_changed":"2008-12-18"},"entity_type":"gene","entity_name":"DSTYK","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list","Radboud University Medical Center, Nijmegen"],"phenotypes":["Renal hypodysplasia","ureteropelvic junction obstruction","vesicoureteric reflux","CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1","{Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":234,"hash_id":"553f9696bb5a1616e5ed45d1","name":"CAKUT","disease_group":"Renal and urinary tract disorders","disease_sub_group":"Structural renal and urinary tract disease","status":"public","version":"1.39","version_created":"2019-06-20T15:14:56.833108Z","relevant_disorders":["Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)"],"stats":{"number_of_genes":65,"number_of_strs":0,"number_of_regions":1},"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":["KIAA0472","DustyPK","RIP5"],"biotype":"protein_coding","hgnc_id":"HGNC:29043","gene_name":"dual serine/threonine and tyrosine protein kinase","omim_gene":["612666"],"alias_name":null,"gene_symbol":"DSTYK","hgnc_symbol":"DSTYK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:205111632-205180727","ensembl_id":"ENSG00000133059"}},"GRch38":{"90":{"location":"1:205142505-205211566","ensembl_id":"ENSG00000133059"}}},"hgnc_date_symbol_changed":"2008-12-18"},"entity_type":"gene","entity_name":"DSTYK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["Renal hypodysplasia","vesicoureteric reflux","{Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805","ureteropelvic junction obstruction","CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1","{Congenital anomalies of kidney and urinary tract, susceptibility to}"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":493,"hash_id":null,"name":"Renal and urinary tract disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.18","version_created":"2019-07-04T13:55:26.963386Z","relevant_disorders":[],"stats":{"number_of_genes":177,"number_of_strs":0,"number_of_regions":3},"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":["KIAA0472","DustyPK","RIP5"],"biotype":"protein_coding","hgnc_id":"HGNC:29043","gene_name":"dual serine/threonine and tyrosine protein kinase","omim_gene":["612666"],"alias_name":null,"gene_symbol":"DSTYK","hgnc_symbol":"DSTYK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:205111632-205180727","ensembl_id":"ENSG00000133059"}},"GRch38":{"90":{"location":"1:205142505-205211566","ensembl_id":"ENSG00000133059"}}},"hgnc_date_symbol_changed":"2008-12-18"},"entity_type":"gene","entity_name":"DSTYK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review Green"],"phenotypes":["Renal hypodysplasia","{Congenital anomalies of kidney and urinary tract, susceptibility to}","CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1","ureteropelvic junction obstruction","{Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805","vesicoureteric reflux"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":678,"hash_id":null,"name":"Unexplained paediatric onset end-stage renal disease","disease_group":"","disease_sub_group":"","status":"public","version":"0.43","version_created":"2019-09-25T12:25:36.245604Z","relevant_disorders":["R257"],"stats":{"number_of_genes":229,"number_of_strs":0,"number_of_regions":3},"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":["KIAA0472","DustyPK","RIP5"],"biotype":"protein_coding","hgnc_id":"HGNC:29043","gene_name":"dual serine/threonine and tyrosine protein kinase","omim_gene":["612666"],"alias_name":null,"gene_symbol":"DSTYK","hgnc_symbol":"DSTYK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:205111632-205180727","ensembl_id":"ENSG00000133059"}},"GRch38":{"90":{"location":"1:205142505-205211566","ensembl_id":"ENSG00000133059"}}},"hgnc_date_symbol_changed":"2008-12-18"},"entity_type":"gene","entity_name":"DSTYK","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["28157540"],"evidence":["NHS GMS","Yorkshire and North East GLH","Expert Review Red"],"phenotypes":["Spastic paraplegia 23, 270750"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder-effect"],"panel":{"id":474,"hash_id":null,"name":"Neurodegenerative disorders - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.106","version_created":"2019-09-20T16:19:10.101841Z","relevant_disorders":["R58"],"stats":{"number_of_genes":395,"number_of_strs":18,"number_of_regions":4},"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":["KIAA0472","DustyPK","RIP5"],"biotype":"protein_coding","hgnc_id":"HGNC:29043","gene_name":"dual serine/threonine and tyrosine protein kinase","omim_gene":["612666"],"alias_name":null,"gene_symbol":"DSTYK","hgnc_symbol":"DSTYK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:205111632-205180727","ensembl_id":"ENSG00000133059"}},"GRch38":{"90":{"location":"1:205142505-205211566","ensembl_id":"ENSG00000133059"}}},"hgnc_date_symbol_changed":"2008-12-18"},"entity_type":"gene","entity_name":"DSTYK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["KIAA0472","DustyPK","RIP5"],"biotype":"protein_coding","hgnc_id":"HGNC:29043","gene_name":"dual serine/threonine and tyrosine protein kinase","omim_gene":["612666"],"alias_name":null,"gene_symbol":"DSTYK","hgnc_symbol":"DSTYK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:205111632-205180727","ensembl_id":"ENSG00000133059"}},"GRch38":{"90":{"location":"1:205142505-205211566","ensembl_id":"ENSG00000133059"}}},"hgnc_date_symbol_changed":"2008-12-18"},"entity_type":"gene","entity_name":"DSTYK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23862974","28157540"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805","Autosomal Recessive Complicated Spastic Paraparesis SPG23"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["KIAA0472","DustyPK","RIP5"],"biotype":"protein_coding","hgnc_id":"HGNC:29043","gene_name":"dual serine/threonine and tyrosine protein kinase","omim_gene":["612666"],"alias_name":null,"gene_symbol":"DSTYK","hgnc_symbol":"DSTYK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:205111632-205180727","ensembl_id":"ENSG00000133059"}},"GRch38":{"90":{"location":"1:205142505-205211566","ensembl_id":"ENSG00000133059"}}},"hgnc_date_symbol_changed":"2008-12-18"},"entity_type":"gene","entity_name":"DSTYK","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","London North GLH"],"phenotypes":["Spastic paraplegia 23, 270750","Childhood onset spastic paraplegia, prominent skin pigment abnormalities (vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair, sensory predominant axonal neuropathy (mild)."],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":85,"hash_id":"55ad205422c1fc7041340234","name":"Hereditary neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor and Sensory Disorders of the PNS","status":"public","version":"1.333","version_created":"2019-07-09T13:10:50.031506Z","relevant_disorders":["Charcot-Marie-Tooth disease"],"stats":{"number_of_genes":276,"number_of_strs":11,"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."}]}},{"gene_data":{"alias":["KIAA0472","DustyPK","RIP5"],"biotype":"protein_coding","hgnc_id":"HGNC:29043","gene_name":"dual serine/threonine and tyrosine protein kinase","omim_gene":["612666"],"alias_name":null,"gene_symbol":"DSTYK","hgnc_symbol":"DSTYK","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:205111632-205180727","ensembl_id":"ENSG00000133059"}},"GRch38":{"90":{"location":"1:205142505-205211566","ensembl_id":"ENSG00000133059"}}},"hgnc_date_symbol_changed":"2008-12-18"},"entity_type":"gene","entity_name":"DSTYK","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["{Congenital anomalies of kidney and urinary tract, susceptibility","to}, 610805"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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"}]}}]}