{"count":8,"next":null,"previous":null,"results":[{"gene_data":{"alias":["DKFZP586B0923","TTC20","KBP"],"biotype":"protein_coding","hgnc_id":"HGNC:23419","gene_name":"KIF1 binding protein","omim_gene":["609367"],"alias_name":["kinesin binding protein"],"gene_symbol":"KIF1BP","hgnc_symbol":"KIF1BP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:70748487-70776738","ensembl_id":"ENSG00000198954"}},"GRch38":{"90":{"location":"10:68988721-69043544","ensembl_id":"ENSG00000198954"}}},"hgnc_date_symbol_changed":"2015-03-27"},"entity_type":"gene","entity_name":"KIF1BP","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["28277559","15883926"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Other","Alder Hey - Erasmus MC"],"phenotypes":["Goldberg-Shprintzen megacolon syndrome, 609460 (includes Hirschsprung disease)","GOSHS"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new-gene-name"],"panel":{"id":63,"hash_id":"58c7f5008f620328d77ce70f","name":"Familial Hirschsprung Disease","disease_group":"Gastroenterological disorders","disease_sub_group":"Gastrointestinal disorders","status":"public","version":"1.6","version_created":"2019-06-20T15:11:10.292595Z","relevant_disorders":[],"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":["DKFZP586B0923","TTC20","KBP"],"biotype":"protein_coding","hgnc_id":"HGNC:23419","gene_name":"KIF1 binding protein","omim_gene":["609367"],"alias_name":["kinesin binding protein"],"gene_symbol":"KIF1BP","hgnc_symbol":"KIF1BP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:70748487-70776738","ensembl_id":"ENSG00000198954"}},"GRch38":{"90":{"location":"10:68988721-69043544","ensembl_id":"ENSG00000198954"}}},"hgnc_date_symbol_changed":"2015-03-27"},"entity_type":"gene","entity_name":"KIF1BP","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["15883926"],"evidence":["Expert Review Green","UKGTN","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Goldberg-Shprintzen megacolon syndrome  609460"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new-gene-name"],"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":["DKFZP586B0923","TTC20","KBP"],"biotype":"protein_coding","hgnc_id":"HGNC:23419","gene_name":"KIF1 binding protein","omim_gene":["609367"],"alias_name":["kinesin binding protein"],"gene_symbol":"KIF1BP","hgnc_symbol":"KIF1BP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:70748487-70776738","ensembl_id":"ENSG00000198954"}},"GRch38":{"90":{"location":"10:68988721-69043544","ensembl_id":"ENSG00000198954"}}},"hgnc_date_symbol_changed":"2015-03-27"},"entity_type":"gene","entity_name":"KIF1BP","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","Other"],"phenotypes":["Goldberg-Shprintzen megacolon syndrome, 609460 (Microcephaly)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new-gene-name"],"panel":{"id":162,"hash_id":"568f860222c1fc1c79ca1769","name":"Severe microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"DNA repair disorders","status":"public","version":"1.72","version_created":"2019-08-19T16:58:29.143286Z","relevant_disorders":["Primary Microcephaly - Microcephalic Dwarfism Spectrum","Severe microcephaly"],"stats":{"number_of_genes":122,"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."}]}},{"gene_data":{"alias":["DKFZP586B0923","TTC20","KBP"],"biotype":"protein_coding","hgnc_id":"HGNC:23419","gene_name":"KIF1 binding protein","omim_gene":["609367"],"alias_name":["kinesin binding protein"],"gene_symbol":"KIF1BP","hgnc_symbol":"KIF1BP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:70748487-70776738","ensembl_id":"ENSG00000198954"}},"GRch38":{"90":{"location":"10:68988721-69043544","ensembl_id":"ENSG00000198954"}}},"hgnc_date_symbol_changed":"2015-03-27"},"entity_type":"gene","entity_name":"KIF1BP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new-gene-name"],"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":["DKFZP586B0923","TTC20","KBP"],"biotype":"protein_coding","hgnc_id":"HGNC:23419","gene_name":"KIF1 binding protein","omim_gene":["609367"],"alias_name":["kinesin binding protein"],"gene_symbol":"KIF1BP","hgnc_symbol":"KIF1BP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:70748487-70776738","ensembl_id":"ENSG00000198954"}},"GRch38":{"90":{"location":"10:68988721-69043544","ensembl_id":"ENSG00000198954"}}},"hgnc_date_symbol_changed":"2015-03-27"},"entity_type":"gene","entity_name":"KIF1BP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15883926"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME 609460"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new-gene-name"],"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":["DKFZP586B0923","TTC20","KBP"],"biotype":"protein_coding","hgnc_id":"HGNC:23419","gene_name":"KIF1 binding protein","omim_gene":["609367"],"alias_name":["kinesin binding protein"],"gene_symbol":"KIF1BP","hgnc_symbol":"KIF1BP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:70748487-70776738","ensembl_id":"ENSG00000198954"}},"GRch38":{"90":{"location":"10:68988721-69043544","ensembl_id":"ENSG00000198954"}}},"hgnc_date_symbol_changed":"2015-03-27"},"entity_type":"gene","entity_name":"KIF1BP","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["16760737","7338549"],"evidence":["Expert Review Green"],"phenotypes":["Goldberg-Shprintzen megacolon syndrome, 609460","GOSHS"],"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":["DKFZP586B0923","TTC20","KBP"],"biotype":"protein_coding","hgnc_id":"HGNC:23419","gene_name":"KIF1 binding protein","omim_gene":["609367"],"alias_name":["kinesin binding protein"],"gene_symbol":"KIF1BP","hgnc_symbol":"KIF1BP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:70748487-70776738","ensembl_id":"ENSG00000198954"}},"GRch38":{"90":{"location":"10:68988721-69043544","ensembl_id":"ENSG00000198954"}}},"hgnc_date_symbol_changed":"2015-03-27"},"entity_type":"gene","entity_name":"KIF1BP","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["15883926","28277559"],"evidence":["Expert Review Amber","Wessex and West Midlands GLH","NHS GMS","UKGTN"],"phenotypes":["Goldberg-Shprintzen megacolon syndrome 609460"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new-gene-name"],"panel":{"id":402,"hash_id":null,"name":"Genetic epilepsy syndromes","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Inherited Epilepsy Syndromes","status":"public","version":"1.363","version_created":"2019-10-08T10:06:11.607307Z","relevant_disorders":["Epilepsy Plus","Epilepsy plus other features","Genetic Epilepsy Syndromes","Epileptic encephalopathy","Familial Focal Epilepsies","Familial Genetic Generalised Epilepsies","Genetic Epilepsies with Febrile Seizures Plus (GEFS+)","Genetic Epilepsies with Febrile Seizures Plus"],"stats":{"number_of_genes":614,"number_of_strs":2,"number_of_regions":13},"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":["DKFZP586B0923","TTC20","KBP"],"biotype":"protein_coding","hgnc_id":"HGNC:23419","gene_name":"KIF1 binding protein","omim_gene":["609367"],"alias_name":["kinesin binding protein"],"gene_symbol":"KIF1BP","hgnc_symbol":"KIF1BP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:70748487-70776738","ensembl_id":"ENSG00000198954"}},"GRch38":{"90":{"location":"10:68988721-69043544","ensembl_id":"ENSG00000198954"}}},"hgnc_date_symbol_changed":"2015-03-27"},"entity_type":"gene","entity_name":"KIF1BP","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["28277559"],"evidence":["Expert Review Green","Expert Review Green"],"phenotypes":["Goldberg-Shprintzen megacolon syndrome, 609460"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new-gene-name"],"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"}]}}]}
