{"count":9,"next":null,"previous":null,"results":[{"gene_data":{"alias":["HLP","DDX13","SKI2W","170A","SKIV2L1"],"biotype":"protein_coding","hgnc_id":"HGNC:10898","gene_name":"Ski2 like RNA helicase","omim_gene":["600478"],"alias_name":null,"gene_symbol":"SKIV2L","hgnc_symbol":"SKIV2L","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:31926857-31937532","ensembl_id":"ENSG00000204351"}},"GRch38":{"90":{"location":"6:31959080-31969755","ensembl_id":"ENSG00000204351"}}},"hgnc_date_symbol_changed":"1995-07-06"},"entity_type":"gene","entity_name":"SKIV2L","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27302973","22444670","27537055 - a pathogenic variant (heterozygous state) in this gene was reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease."],"evidence":["UKGTN","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Expert list"],"phenotypes":["Trichohepatoenteric syndrome 2 614602"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":176,"hash_id":"56ba026c22c1fc5025762b50","name":"Infantile enterocolitis & monogenic inflammatory bowel disease","disease_group":"Gastroenterological disorders","disease_sub_group":"Gastrointestinal disorders","status":"public","version":"1.16","version_created":"2017-11-05T02:37:20.171671Z","relevant_disorders":["Infantile enterocolitis and monogenic inflammatory bowel disease"],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["HLP","DDX13","SKI2W","170A","SKIV2L1"],"biotype":"protein_coding","hgnc_id":"HGNC:10898","gene_name":"Ski2 like RNA helicase","omim_gene":["600478"],"alias_name":null,"gene_symbol":"SKIV2L","hgnc_symbol":"SKIV2L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31926857-31937532","ensembl_id":"ENSG00000204351"}},"GRch38":{"90":{"location":"6:31959080-31969755","ensembl_id":"ENSG00000204351"}}},"hgnc_date_symbol_changed":"1995-07-06"},"entity_type":"gene","entity_name":"SKIV2L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","UKGTN","Expert list","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Trichohepatoenteric syndrome 2, 614602","Trichohepatoenteric Syndrome","Inflammatory Bowel Disease (Very Early Onset)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":33,"hash_id":"56ba026422c1fc5025762b4f","name":"Gastrointestinal epithelial barrier disorders","disease_group":"Gastroenterological disorders","disease_sub_group":"Gastrointestinal disorders","status":"public","version":"1.59","version_created":"2019-06-20T15:11:44.535737Z","relevant_disorders":[],"stats":{"number_of_genes":82,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["HLP","DDX13","SKI2W","170A","SKIV2L1"],"biotype":"protein_coding","hgnc_id":"HGNC:10898","gene_name":"Ski2 like RNA helicase","omim_gene":["600478"],"alias_name":null,"gene_symbol":"SKIV2L","hgnc_symbol":"SKIV2L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31926857-31937532","ensembl_id":"ENSG00000204351"}},"GRch38":{"90":{"location":"6:31959080-31969755","ensembl_id":"ENSG00000204351"}}},"hgnc_date_symbol_changed":"1995-07-06"},"entity_type":"gene","entity_name":"SKIV2L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22444670","27302973","27537055 - a pathogenic variant (heterozygous state) in this gene was reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease."],"evidence":["Expert Review Green","Other","NHS GMS"],"phenotypes":["Trichohepatoenteric syndrome 2 614602"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":514,"hash_id":null,"name":"Intestinal failure","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-09-04T09:28:37.913347Z","relevant_disorders":["R331"],"stats":{"number_of_genes":11,"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":"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":["HLP","DDX13","SKI2W","170A","SKIV2L1"],"biotype":"protein_coding","hgnc_id":"HGNC:10898","gene_name":"Ski2 like RNA helicase","omim_gene":["600478"],"alias_name":null,"gene_symbol":"SKIV2L","hgnc_symbol":"SKIV2L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31926857-31937532","ensembl_id":"ENSG00000204351"}},"GRch38":{"90":{"location":"6:31959080-31969755","ensembl_id":"ENSG00000204351"}}},"hgnc_date_symbol_changed":"1995-07-06"},"entity_type":"gene","entity_name":"SKIV2L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29484573","29145277","28944135"],"evidence":["NHS GMS","North West GLH","London North GLH","Expert Review Green","ESID Registry 20171117","GOSH PID v.8.0"],"phenotypes":["Trichohepatoenteric syndrome 2,614602","Trichohepatoenteric syndrome","Immune dysfunction"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["early-onset"],"panel":{"id":398,"hash_id":null,"name":"Primary immunodeficiency","disease_group":"","disease_sub_group":"","status":"public","version":"1.132","version_created":"2019-09-27T14:37:49.085568Z","relevant_disorders":["Primary immunodeficiency disorders","A- or hypo-gammaglobulinaemia","Congenital neutropaenia","Agranulocytosis","Combined B and T cell defect","Inherited complement deficiency","SCID","Primary immune disorder","Primary immunodeficiency","A-gammaglobulinaemia","Agammaglobulinaemia","hypo-gammaglobulinaemia","hypogammaglobulinemia","immune deficiency syndromes","Severe combined immunodeficiency","Congenital neutopenia","Familial haemophagocytic lymphohistiocytic disorders","Familial hemophagocytic lymphohistiocytic disorders","PID","Sepsis","Disseminated non-tuberculous mycobacterial infection","R15"],"stats":{"number_of_genes":395,"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."}]}},{"gene_data":{"alias":["HLP","DDX13","SKI2W","170A","SKIV2L1"],"biotype":"protein_coding","hgnc_id":"HGNC:10898","gene_name":"Ski2 like RNA helicase","omim_gene":["600478"],"alias_name":null,"gene_symbol":"SKIV2L","hgnc_symbol":"SKIV2L","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:31926857-31937532","ensembl_id":"ENSG00000204351"}},"GRch38":{"90":{"location":"6:31959080-31969755","ensembl_id":"ENSG00000204351"}}},"hgnc_date_symbol_changed":"1995-07-06"},"entity_type":"gene","entity_name":"SKIV2L","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Trichohepatoenteric syndrome 2 (Other metabolic disorders)","Infantile enterocolitis & monogenic inflammatory bowel disease"],"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":["HLP","DDX13","SKI2W","170A","SKIV2L1"],"biotype":"protein_coding","hgnc_id":"HGNC:10898","gene_name":"Ski2 like RNA helicase","omim_gene":["600478"],"alias_name":null,"gene_symbol":"SKIV2L","hgnc_symbol":"SKIV2L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31926857-31937532","ensembl_id":"ENSG00000204351"}},"GRch38":{"90":{"location":"6:31959080-31969755","ensembl_id":"ENSG00000204351"}}},"hgnc_date_symbol_changed":"1995-07-06"},"entity_type":"gene","entity_name":"SKIV2L","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London North GLH","NHS GMS","Expert Review Amber"],"phenotypes":["Infantile enterocolitis & monogenic inflammatory bowel disease","Trichohepatoenteric syndrome 2 (Other metabolic disorders)"],"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":["HLP","DDX13","SKI2W","170A","SKIV2L1"],"biotype":"protein_coding","hgnc_id":"HGNC:10898","gene_name":"Ski2 like RNA helicase","omim_gene":["600478"],"alias_name":null,"gene_symbol":"SKIV2L","hgnc_symbol":"SKIV2L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31926857-31937532","ensembl_id":"ENSG00000204351"}},"GRch38":{"90":{"location":"6:31959080-31969755","ensembl_id":"ENSG00000204351"}}},"hgnc_date_symbol_changed":"1995-07-06"},"entity_type":"gene","entity_name":"SKIV2L","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["TRICHOHEPATOENTERIC SYNDROME 2"],"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":["HLP","DDX13","SKI2W","170A","SKIV2L1"],"biotype":"protein_coding","hgnc_id":"HGNC:10898","gene_name":"Ski2 like RNA helicase","omim_gene":["600478"],"alias_name":null,"gene_symbol":"SKIV2L","hgnc_symbol":"SKIV2L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31926857-31937532","ensembl_id":"ENSG00000204351"}},"GRch38":{"90":{"location":"6:31959080-31969755","ensembl_id":"ENSG00000204351"}}},"hgnc_date_symbol_changed":"1995-07-06"},"entity_type":"gene","entity_name":"SKIV2L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["TRICHOHEPATOENTERIC SYNDROME 2 615602"],"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":["HLP","DDX13","SKI2W","170A","SKIV2L1"],"biotype":"protein_coding","hgnc_id":"HGNC:10898","gene_name":"Ski2 like RNA helicase","omim_gene":["600478"],"alias_name":null,"gene_symbol":"SKIV2L","hgnc_symbol":"SKIV2L","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:31926857-31937532","ensembl_id":"ENSG00000204351"}},"GRch38":{"90":{"location":"6:31959080-31969755","ensembl_id":"ENSG00000204351"}}},"hgnc_date_symbol_changed":"1995-07-06"},"entity_type":"gene","entity_name":"SKIV2L","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Trichohepatoenteric syndrome 2, 614602"],"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"}]}}]}
