{"count":10,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FLJ23356","SgK196"],"biotype":"protein_coding","hgnc_id":"HGNC:26267","gene_name":"protein-O-mannose kinase","omim_gene":["615247"],"alias_name":null,"gene_symbol":"POMK","hgnc_symbol":"POMK","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:42948658-42978577","ensembl_id":"ENSG00000185900"}},"GRch38":{"90":{"location":"8:43093506-43123434","ensembl_id":"ENSG00000185900"}}},"hgnc_date_symbol_changed":"2013-08-22"},"entity_type":"gene","entity_name":"POMK","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["23519211","24556084","24556084"],"evidence":["NHS GMS","Expert Review Green","Literature"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"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":["FLJ23356","SgK196"],"biotype":"protein_coding","hgnc_id":"HGNC:26267","gene_name":"protein-O-mannose kinase","omim_gene":["615247"],"alias_name":null,"gene_symbol":"POMK","hgnc_symbol":"POMK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:42948658-42978577","ensembl_id":"ENSG00000185900"}},"GRch38":{"90":{"location":"8:43093506-43123434","ensembl_id":"ENSG00000185900"}}},"hgnc_date_symbol_changed":"2013-08-22"},"entity_type":"gene","entity_name":"POMK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24556084","24925318"],"evidence":["Expert Review Green"],"phenotypes":["?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":465,"hash_id":null,"name":"Neuromuscular disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.11","version_created":"2019-10-09T12:42:27.875560Z","relevant_disorders":["Other rare neuromuscular disorders; R381"],"stats":{"number_of_genes":245,"number_of_strs":2,"number_of_regions":5},"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":["FLJ23356","SgK196"],"biotype":"protein_coding","hgnc_id":"HGNC:26267","gene_name":"protein-O-mannose kinase","omim_gene":["615247"],"alias_name":null,"gene_symbol":"POMK","hgnc_symbol":"POMK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:42948658-42978577","ensembl_id":"ENSG00000185900"}},"GRch38":{"90":{"location":"8:43093506-43123434","ensembl_id":"ENSG00000185900"}}},"hgnc_date_symbol_changed":"2013-08-22"},"entity_type":"gene","entity_name":"POMK","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24925318"],"evidence":["Expert Review Red"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12  615249"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":477,"hash_id":null,"name":"Ataxia and cerebellar anomalies - narrow panel","disease_group":"","disease_sub_group":"","status":"public","version":"1.7","version_created":"2019-09-20T16:56:48.672242Z","relevant_disorders":[],"stats":{"number_of_genes":199,"number_of_strs":13,"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)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["FLJ23356","SgK196"],"biotype":"protein_coding","hgnc_id":"HGNC:26267","gene_name":"protein-O-mannose kinase","omim_gene":["615247"],"alias_name":null,"gene_symbol":"POMK","hgnc_symbol":"POMK","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:42948658-42978577","ensembl_id":"ENSG00000185900"}},"GRch38":{"90":{"location":"8:43093506-43123434","ensembl_id":"ENSG00000185900"}}},"hgnc_date_symbol_changed":"2013-08-22"},"entity_type":"gene","entity_name":"POMK","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Other"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":230,"hash_id":"553f979fbb5a1616e5ed45f8","name":"Cataracts","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"2.0","version_created":"2019-10-02T14:52:22.701027Z","relevant_disorders":["R31"],"stats":{"number_of_genes":172,"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":"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":["FLJ23356","SgK196"],"biotype":"protein_coding","hgnc_id":"HGNC:26267","gene_name":"protein-O-mannose kinase","omim_gene":["615247"],"alias_name":null,"gene_symbol":"POMK","hgnc_symbol":"POMK","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:42948658-42978577","ensembl_id":"ENSG00000185900"}},"GRch38":{"90":{"location":"8:43093506-43123434","ensembl_id":"ENSG00000185900"}}},"hgnc_date_symbol_changed":"2013-08-22"},"entity_type":"gene","entity_name":"POMK","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24925318"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12  615249"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":96,"hash_id":"568f8ba422c1fc1c79ca1774","name":"Malformations of cortical development","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodevelopmental disorders","status":"public","version":"1.171","version_created":"2019-08-12T12:05:00.638492Z","relevant_disorders":[],"stats":{"number_of_genes":74,"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","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":["FLJ23356","SgK196"],"biotype":"protein_coding","hgnc_id":"HGNC:26267","gene_name":"protein-O-mannose kinase","omim_gene":["615247"],"alias_name":null,"gene_symbol":"POMK","hgnc_symbol":"POMK","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:42948658-42978577","ensembl_id":"ENSG00000185900"}},"GRch38":{"90":{"location":"8:43093506-43123434","ensembl_id":"ENSG00000185900"}}},"hgnc_date_symbol_changed":"2013-08-22"},"entity_type":"gene","entity_name":"POMK","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["23519211","24556084"],"evidence":["NHS GMS","London South GLH","Expert Review Green","","Radboud University Medical Center, Nijmegen"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":207,"hash_id":"55b117c022c1fc7dd7ce411c","name":"Congenital muscular dystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"1.62","version_created":"2019-10-09T12:19:40.245789Z","relevant_disorders":[],"stats":{"number_of_genes":53,"number_of_strs":1,"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":["FLJ23356","SgK196"],"biotype":"protein_coding","hgnc_id":"HGNC:26267","gene_name":"protein-O-mannose kinase","omim_gene":["615247"],"alias_name":null,"gene_symbol":"POMK","hgnc_symbol":"POMK","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:42948658-42978577","ensembl_id":"ENSG00000185900"}},"GRch38":{"90":{"location":"8:43093506-43123434","ensembl_id":"ENSG00000185900"}}},"hgnc_date_symbol_changed":"2013-08-22"},"entity_type":"gene","entity_name":"POMK","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","","Radboud University Medical Center, Nijmegen"],"phenotypes":["?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 \t615249"],"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":["FLJ23356","SgK196"],"biotype":"protein_coding","hgnc_id":"HGNC:26267","gene_name":"protein-O-mannose kinase","omim_gene":["615247"],"alias_name":null,"gene_symbol":"POMK","hgnc_symbol":"POMK","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:42948658-42978577","ensembl_id":"ENSG00000185900"}},"GRch38":{"90":{"location":"8:43093506-43123434","ensembl_id":"ENSG00000185900"}}},"hgnc_date_symbol_changed":"2013-08-22"},"entity_type":"gene","entity_name":"POMK","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24925318","24556084","29910097"],"evidence":["Yorkshire and North East GLH","NHS GMS","South West GLH","Expert Review Red","Radboud University Medical Center, Nijmegen"],"phenotypes":["?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249","limb girdle muscular dystrophy","congenital muscular dystrophy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":185,"hash_id":"55b7a65322c1fc05fc7a1869","name":"Limb girdle muscular dystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"1.89","version_created":"2019-06-20T15:15:12.994579Z","relevant_disorders":[],"stats":{"number_of_genes":84,"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":["FLJ23356","SgK196"],"biotype":"protein_coding","hgnc_id":"HGNC:26267","gene_name":"protein-O-mannose kinase","omim_gene":["615247"],"alias_name":null,"gene_symbol":"POMK","hgnc_symbol":"POMK","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:42948658-42978577","ensembl_id":"ENSG00000185900"}},"GRch38":{"90":{"location":"8:43093506-43123434","ensembl_id":"ENSG00000185900"}}},"hgnc_date_symbol_changed":"2013-08-22"},"entity_type":"gene","entity_name":"POMK","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24925318"],"evidence":["UKGTN","Literature"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12  615249"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":286,"hash_id":"568f871422c1fc1c79ca176d","name":"Cerebellar hypoplasia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.39","version_created":"2019-10-07T10:30:38.401018Z","relevant_disorders":["Cerebellar Hypoplasia","Pontine tegmental cap dysplasia"],"stats":{"number_of_genes":66,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FLJ23356","SgK196"],"biotype":"protein_coding","hgnc_id":"HGNC:26267","gene_name":"protein-O-mannose kinase","omim_gene":["615247"],"alias_name":null,"gene_symbol":"POMK","hgnc_symbol":"POMK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:42948658-42978577","ensembl_id":"ENSG00000185900"}},"GRch38":{"90":{"location":"8:43093506-43123434","ensembl_id":"ENSG00000185900"}}},"hgnc_date_symbol_changed":"2013-08-22"},"entity_type":"gene","entity_name":"POMK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23519211","24925318","24556084"],"evidence":["Expert Review Green","PAGE Additional Gene List"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A 615249"],"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."}]}}]}
