{"count":8,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2555","gene_name":"cullin 4B","omim_gene":["300304"],"alias_name":null,"gene_symbol":"CUL4B","hgnc_symbol":"CUL4B","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:119658464-119709649","ensembl_id":"ENSG00000158290"}},"GRch38":{"90":{"location":"X:120524609-120575794","ensembl_id":"ENSG00000158290"}}},"hgnc_date_symbol_changed":"1998-10-29"},"entity_type":"gene","entity_name":"CUL4B","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24898194","17236139","25385192"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","UKGTN"],"phenotypes":["Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354","XLMR with Short Stature, Small Testes, Muscle Wasting, and Tremor panel"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":92,"hash_id":"573b204d8f62030defb98057","name":"Hypogonadotropic hypogonadism","disease_group":"Endocrine disorders","disease_sub_group":"Hypothalamic and pituitary disorders","status":"public","version":"1.26","version_created":"2019-06-20T15:11:57.281996Z","relevant_disorders":["Kallmann syndrome","Kallmann syndrom","Idiopathic hypogonadotropic hypogonadism"],"stats":{"number_of_genes":46,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2555","gene_name":"cullin 4B","omim_gene":["300304"],"alias_name":null,"gene_symbol":"CUL4B","hgnc_symbol":"CUL4B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:119658464-119709649","ensembl_id":"ENSG00000158290"}},"GRch38":{"90":{"location":"X:120524609-120575794","ensembl_id":"ENSG00000158290"}}},"hgnc_date_symbol_changed":"1998-10-29"},"entity_type":"gene","entity_name":"CUL4B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Wessex and West Midlands GLH","Expert Review Red","NHS GMS","South West GLH"],"phenotypes":["Syndromic X-linked mental retardation (OMIM 300354)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":650,"hash_id":null,"name":"Hypogonadotropic hypogonadism idiopathic","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-07-31T14:03:41.992857Z","relevant_disorders":["R148"],"stats":{"number_of_genes":32,"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":"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2555","gene_name":"cullin 4B","omim_gene":["300304"],"alias_name":null,"gene_symbol":"CUL4B","hgnc_symbol":"CUL4B","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:119658464-119709649","ensembl_id":"ENSG00000158290"}},"GRch38":{"90":{"location":"X:120524609-120575794","ensembl_id":"ENSG00000158290"}}},"hgnc_date_symbol_changed":"1998-10-29"},"entity_type":"gene","entity_name":"CUL4B","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert list"],"phenotypes":[],"mode_of_inheritance":"","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2555","gene_name":"cullin 4B","omim_gene":["300304"],"alias_name":null,"gene_symbol":"CUL4B","hgnc_symbol":"CUL4B","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:119658464-119709649","ensembl_id":"ENSG00000158290"}},"GRch38":{"90":{"location":"X:120524609-120575794","ensembl_id":"ENSG00000158290"}}},"hgnc_date_symbol_changed":"1998-10-29"},"entity_type":"gene","entity_name":"CUL4B","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24898194"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","UKGTN"],"phenotypes":["Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354","XLMR with Short Stature, Small Testes, Muscle Wasting, and Tremor"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":9,"hash_id":"569380ac22c1fc251660faf8","name":"Disorders of sex development","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","status":"public","version":"2.1","version_created":"2019-10-01T10:16:03.440399Z","relevant_disorders":["R146"],"stats":{"number_of_genes":54,"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":"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2555","gene_name":"cullin 4B","omim_gene":["300304"],"alias_name":null,"gene_symbol":"CUL4B","hgnc_symbol":"CUL4B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:119658464-119709649","ensembl_id":"ENSG00000158290"}},"GRch38":{"90":{"location":"X:120524609-120575794","ensembl_id":"ENSG00000158290"}}},"hgnc_date_symbol_changed":"1998-10-29"},"entity_type":"gene","entity_name":"CUL4B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2555","gene_name":"cullin 4B","omim_gene":["300304"],"alias_name":null,"gene_symbol":"CUL4B","hgnc_symbol":"CUL4B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:119658464-119709649","ensembl_id":"ENSG00000158290"}},"GRch38":{"90":{"location":"X:120524609-120575794","ensembl_id":"ENSG00000158290"}}},"hgnc_date_symbol_changed":"1998-10-29"},"entity_type":"gene","entity_name":"CUL4B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17236139"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE 300354"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2555","gene_name":"cullin 4B","omim_gene":["300304"],"alias_name":null,"gene_symbol":"CUL4B","hgnc_symbol":"CUL4B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:119658464-119709649","ensembl_id":"ENSG00000158290"}},"GRch38":{"90":{"location":"X:120524609-120575794","ensembl_id":"ENSG00000158290"}}},"hgnc_date_symbol_changed":"1998-10-29"},"entity_type":"gene","entity_name":"CUL4B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25385192","17236139","20014135","20002452","17273978","22182342"],"evidence":["Expert Review Green","Wessex and West Midlands GLH","Literature","NHS GMS"],"phenotypes":["Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354","seizures"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2555","gene_name":"cullin 4B","omim_gene":["300304"],"alias_name":null,"gene_symbol":"CUL4B","hgnc_symbol":"CUL4B","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:119658464-119709649","ensembl_id":"ENSG00000158290"}},"GRch38":{"90":{"location":"X:120524609-120575794","ensembl_id":"ENSG00000158290"}}},"hgnc_date_symbol_changed":"1998-10-29"},"entity_type":"gene","entity_name":"CUL4B","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","UKGTN"],"phenotypes":["Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354","MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE (MRXC)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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"}]}}]}