{"count":11,"next":null,"previous":null,"results":[{"gene_data":{"alias":["MRK","LCK2","KIAA0936","MGC46090"],"biotype":"protein_coding","hgnc_id":"HGNC:21219","gene_name":"intestinal cell kinase","omim_gene":["612325"],"alias_name":["serine/threonine-protein kinase ICK","MAK-related kinase"],"gene_symbol":"ICK","hgnc_symbol":"ICK","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:52866077-52926600","ensembl_id":"ENSG00000112144"}},"GRch38":{"90":{"location":"6:53001279-53061802","ensembl_id":"ENSG00000112144"}}},"hgnc_date_symbol_changed":"2003-08-21"},"entity_type":"gene","entity_name":"ICK","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":["19185282"],"evidence":["NHS GMS","Expert Review Amber","Literature"],"phenotypes":["Endocrine-cerebroosteodysplasia  612651"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["watchlist","new-gene-name"],"panel":{"id":179,"hash_id":"5763f35c8f620350a22bccdf","name":"Hydrocephalus","disease_group":"","disease_sub_group":"","status":"public","version":"1.38","version_created":"2019-09-30T12:37:55.307389Z","relevant_disorders":["Hydrocephalus;R86"],"stats":{"number_of_genes":98,"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 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":["MRK","LCK2","KIAA0936","MGC46090"],"biotype":"protein_coding","hgnc_id":"HGNC:21219","gene_name":"intestinal cell kinase","omim_gene":["612325"],"alias_name":["serine/threonine-protein kinase ICK","MAK-related kinase"],"gene_symbol":"ICK","hgnc_symbol":"ICK","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:52866077-52926600","ensembl_id":"ENSG00000112144"}},"GRch38":{"90":{"location":"6:53001279-53061802","ensembl_id":"ENSG00000112144"}}},"hgnc_date_symbol_changed":"2003-08-21"},"entity_type":"gene","entity_name":"ICK","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27466187","27069622","19185282"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Endocrine-cerebroosteodysplasia \t612651","ORPHA:199332 Endocrine-cerebro-osteodysplasia syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new-gene-name"],"panel":{"id":122,"hash_id":"554a0ac9bb5a167e4ccd1ec2","name":"Thoracic dystrophies","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"1.7","version_created":"2019-01-15T15:21:46.685111Z","relevant_disorders":[],"stats":{"number_of_genes":133,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["MRK","LCK2","KIAA0936","MGC46090"],"biotype":"protein_coding","hgnc_id":"HGNC:21219","gene_name":"intestinal cell kinase","omim_gene":["612325"],"alias_name":["serine/threonine-protein kinase ICK","MAK-related kinase"],"gene_symbol":"ICK","hgnc_symbol":"ICK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:52866077-52926600","ensembl_id":"ENSG00000112144"}},"GRch38":{"90":{"location":"6:53001279-53061802","ensembl_id":"ENSG00000112144"}}},"hgnc_date_symbol_changed":"2003-08-21"},"entity_type":"gene","entity_name":"ICK","confidence_level":"0","penetrance":null,"mode_of_pathogenicity":null,"publications":["27466187","27069622","19185282"],"evidence":["Expert Review Removed","Victorian Clinical Genetics Services"],"phenotypes":["ECO","Short-rib thoracic dysplasia with polydactyly","Rhizomelia","Polydactyly","SRTD","Mesomelia","Endocrine-cerebroosteodysplasia, 612651"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new-gene-name"],"panel":{"id":384,"hash_id":null,"name":"Limb disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.61","version_created":"2019-10-03T10:01:34.398179Z","relevant_disorders":[],"stats":{"number_of_genes":234,"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."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["MRK","LCK2","KIAA0936","MGC46090"],"biotype":"protein_coding","hgnc_id":"HGNC:21219","gene_name":"intestinal cell kinase","omim_gene":["612325"],"alias_name":["serine/threonine-protein kinase ICK","MAK-related kinase"],"gene_symbol":"ICK","hgnc_symbol":"ICK","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:52866077-52926600","ensembl_id":"ENSG00000112144"}},"GRch38":{"90":{"location":"6:53001279-53061802","ensembl_id":"ENSG00000112144"}}},"hgnc_date_symbol_changed":"2003-08-21"},"entity_type":"gene","entity_name":"ICK","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27069622","19185282"],"evidence":["NHS GMS","Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen","Expert list","Emory Genetics Laboratory",""],"phenotypes":["Endocrine-cerebroosteodysplasia 612651"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new-gene-name"],"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":["MRK","LCK2","KIAA0936","MGC46090"],"biotype":"protein_coding","hgnc_id":"HGNC:21219","gene_name":"intestinal cell kinase","omim_gene":["612325"],"alias_name":["serine/threonine-protein kinase ICK","MAK-related kinase"],"gene_symbol":"ICK","hgnc_symbol":"ICK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:52866077-52926600","ensembl_id":"ENSG00000112144"}},"GRch38":{"90":{"location":"6:53001279-53061802","ensembl_id":"ENSG00000112144"}}},"hgnc_date_symbol_changed":"2003-08-21"},"entity_type":"gene","entity_name":"ICK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27069622","19185282","27466187"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Endocrine-cerebroosteodysplasia, 612651","ECO","short-rib thoracic dysplasia with polydactyly (SRTD)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new-gene-name"],"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":["MRK","LCK2","KIAA0936","MGC46090"],"biotype":"protein_coding","hgnc_id":"HGNC:21219","gene_name":"intestinal cell kinase","omim_gene":["612325"],"alias_name":["serine/threonine-protein kinase ICK","MAK-related kinase"],"gene_symbol":"ICK","hgnc_symbol":"ICK","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:52866077-52926600","ensembl_id":"ENSG00000112144"}},"GRch38":{"90":{"location":"6:53001279-53061802","ensembl_id":"ENSG00000112144"}}},"hgnc_date_symbol_changed":"2003-08-21"},"entity_type":"gene","entity_name":"ICK","confidence_level":"0","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Removed","Emory Genetics Laboratory"],"phenotypes":["Disproportionate Short Stature"],"mode_of_inheritance":"","tags":["new-gene-name"],"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":["MRK","LCK2","KIAA0936","MGC46090"],"biotype":"protein_coding","hgnc_id":"HGNC:21219","gene_name":"intestinal cell kinase","omim_gene":["612325"],"alias_name":["serine/threonine-protein kinase ICK","MAK-related kinase"],"gene_symbol":"ICK","hgnc_symbol":"ICK","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:52866077-52926600","ensembl_id":"ENSG00000112144"}},"GRch38":{"90":{"location":"6:53001279-53061802","ensembl_id":"ENSG00000112144"}}},"hgnc_date_symbol_changed":"2003-08-21"},"entity_type":"gene","entity_name":"ICK","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["19185282","24853502","27069622"],"evidence":["Expert Review Green"],"phenotypes":["Endocrine-cerebroosteodysplasia, 612651 (includes cleft lip, cleft palate)","ECO"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new-gene-name"],"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":["MRK","LCK2","KIAA0936","MGC46090"],"biotype":"protein_coding","hgnc_id":"HGNC:21219","gene_name":"intestinal cell kinase","omim_gene":["612325"],"alias_name":["serine/threonine-protein kinase ICK","MAK-related kinase"],"gene_symbol":"ICK","hgnc_symbol":"ICK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:52866077-52926600","ensembl_id":"ENSG00000112144"}},"GRch38":{"90":{"location":"6:53001279-53061802","ensembl_id":"ENSG00000112144"}}},"hgnc_date_symbol_changed":"2003-08-21"},"entity_type":"gene","entity_name":"ICK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["19185282","27069622","27466187"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Endocrine-cerebroosteodysplasia, 612651","ECO","short-rib thoracic dysplasia with polydactyly (SRTD)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new-gene-name"],"panel":{"id":150,"hash_id":"568ea01e22c1fc1c78b6715d","name":"Rare multisystem ciliopathy disorders","disease_group":"Ciliopathies","disease_sub_group":"Congenital malformations caused by ciliopathies","status":"public","version":"1.121","version_created":"2019-09-26T13:15:06.802957Z","relevant_disorders":["Joubert syndrome","Bardet-Biedl Syndrome"],"stats":{"number_of_genes":201,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["MRK","LCK2","KIAA0936","MGC46090"],"biotype":"protein_coding","hgnc_id":"HGNC:21219","gene_name":"intestinal cell kinase","omim_gene":["612325"],"alias_name":["serine/threonine-protein kinase ICK","MAK-related kinase"],"gene_symbol":"ICK","hgnc_symbol":"ICK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:52866077-52926600","ensembl_id":"ENSG00000112144"}},"GRch38":{"90":{"location":"6:53001279-53061802","ensembl_id":"ENSG00000112144"}}},"hgnc_date_symbol_changed":"2003-08-21"},"entity_type":"gene","entity_name":"ICK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19185282","27069622","27466187"],"evidence":["Expert Review Green","Expert Review Green","Literature"],"phenotypes":["short-rib thoracic dysplasia with polydactyly (SRTD)","Endocrine-cerebroosteodysplasia, 612651","ECO"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new-gene-name"],"panel":{"id":724,"hash_id":null,"name":"Neurological ciliopathies","disease_group":"Ciliopathies","disease_sub_group":"Congenital malformations caused by ciliopathies","status":"public","version":"0.7","version_created":"2019-10-02T08:39:13.157240Z","relevant_disorders":[],"stats":{"number_of_genes":57,"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."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["MRK","LCK2","KIAA0936","MGC46090"],"biotype":"protein_coding","hgnc_id":"HGNC:21219","gene_name":"intestinal cell kinase","omim_gene":["612325"],"alias_name":["serine/threonine-protein kinase ICK","MAK-related kinase"],"gene_symbol":"ICK","hgnc_symbol":"ICK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:52866077-52926600","ensembl_id":"ENSG00000112144"}},"GRch38":{"90":{"location":"6:53001279-53061802","ensembl_id":"ENSG00000112144"}}},"hgnc_date_symbol_changed":"2003-08-21"},"entity_type":"gene","entity_name":"ICK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19185282","27069622","27466187"],"evidence":["Expert Review Green","Literature","Expert Review Green","Literature"],"phenotypes":["short-rib thoracic dysplasia with polydactyly (SRTD)","Endocrine-cerebroosteodysplasia, 612651","ECO"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new-gene-name"],"panel":{"id":725,"hash_id":null,"name":"Renal ciliopathies","disease_group":"Ciliopathies","disease_sub_group":"Congenital malformations caused by ciliopathies","status":"public","version":"1.0","version_created":"2019-09-03T15:05:56.297619Z","relevant_disorders":[],"stats":{"number_of_genes":91,"number_of_strs":0,"number_of_regions":2},"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"},{"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":["MRK","LCK2","KIAA0936","MGC46090"],"biotype":"protein_coding","hgnc_id":"HGNC:21219","gene_name":"intestinal cell kinase","omim_gene":["612325"],"alias_name":["serine/threonine-protein kinase ICK","MAK-related kinase"],"gene_symbol":"ICK","hgnc_symbol":"ICK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:52866077-52926600","ensembl_id":"ENSG00000112144"}},"GRch38":{"90":{"location":"6:53001279-53061802","ensembl_id":"ENSG00000112144"}}},"hgnc_date_symbol_changed":"2003-08-21"},"entity_type":"gene","entity_name":"ICK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19185282","27069622","27466187"],"evidence":["Expert Review Green","Literature","Expert Review Green","Literature"],"phenotypes":["short-rib thoracic dysplasia with polydactyly (SRTD)","Endocrine-cerebroosteodysplasia, 612651","ECO"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new-gene-name"],"panel":{"id":726,"hash_id":null,"name":"Skeletal ciliopathies","disease_group":"Ciliopathies","disease_sub_group":"Congenital malformations caused by ciliopathies","status":"public","version":"0.15","version_created":"2019-10-01T15:09:46.533258Z","relevant_disorders":[],"stats":{"number_of_genes":59,"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."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}}]}
